HBA1 gene related symptoms and diseases
All the information presented here about the HBA1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to HBA1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Anemia | Uncommon - Between 30% and 50% cases |
| Hepatomegaly | Uncommon - Between 30% and 50% cases |
| Splenomegaly | Uncommon - Between 30% and 50% cases |
| Reduced alpha/beta synthesis ratio | Uncommon - Between 30% and 50% cases |
| Fatigue | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with HBA1 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Jaundice
- Hemolytic anemia
Rarely - Less than 30% cases
- Neoplasm
- Hemoglobin H
- Microcytic anemia
- Angina pectoris
- Hydrops fetalis
- Polycythemia
And 133 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to HBA1 gene
Here you will find a list of rare diseases related to the HBA1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
POLYCYTHEMIA VERA
Alternate names
POLYCYTHEMIA VERA Is also known as polycythemia rubra vera, acquired primary erythrocytosis, prv, vaquez disease, osler-vaquez disease, pv
Description
Polycythemia vera (PV) is an acquired myeloproliferative disorder characterized by an elevated absolute red blood cell mass caused by uncontrolled red blood cell production, frequently associated with uncontrolled white blood cell and platelet production.
Most common symptoms of POLYCYTHEMIA VERA
- Neoplasm
- Visual impairment
- Hypertension
- Hepatomegaly
- Fatigue
More info about POLYCYTHEMIA VERA
ALPHA-THALASSEMIA-INTELLECTUAL DISABILITY SYNDROME LINKED TO CHROMOSOME 16
Alternate names
ALPHA-THALASSEMIA-INTELLECTUAL DISABILITY SYNDROME LINKED TO CHROMOSOME 16 Is also known as hbhr, atr syndrome, deletion type, alpha thalassemia-mental retardation syndrome, mental retardation with hemoglobin h, alpha thalassemia-intellectual disability syndrome, deletion type, alpha-thalassemia/mental retardation syndrome, deletion-type, atr, deletio
Description
Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia (see this term) characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities.
Most common symptoms of ALPHA-THALASSEMIA-INTELLECTUAL DISABILITY SYNDROME LINKED TO CHROMOSOME 16
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Microcephaly
More info about ALPHA-THALASSEMIA-INTELLECTUAL DISABILITY SYNDROME LINKED TO CHROMOSOME 16
HEMOGLOBIN H DISEASE
Alternate names
HEMOGLOBIN H DISEASE Is also known as hbh disease, alpha-thalassemia intermedia
Description
Hemoglobin H (HbH) disease is a moderate to severe form of alpha-thalassemia (see this term) characterized by pronounced microcytic hypochromic hemolytic anemia.
More info about HEMOGLOBIN H DISEASE
SOURCES: ORPHANET
HEMOGLOBIN H DISEASE; HBH
Alternate names
HEMOGLOBIN H DISEASE; HBH Is also known as alpha-thalassemia, hemoglobin h type, hemoglobin h disease, deletional
Description
Hemoglobin H disease is a subtype of alpha-thalassemia (see {604131}) in which patients have compound heterozygosity for alpha(+)-thalassemia, caused by deletion of one alpha-globin gene, and for alpha(0)-thalassemia, caused by deletion in cis of 2 alpha-globin genes (summary by Lal et al., 2011). When 3 alpha-globin genes become inactive because of deletions with or without concomitant nondeletional mutations, the affected individual has only 1 functional alpha-globin gene. These people usually have moderate anemia and marked microcytosis and hypochromia. In affected adults, there is an excess of beta-globin chains within erythrocytes that will form beta-4 tetramers, also known as hemoglobin H (summary by Chui et al., 2003).Hb H disease is usually caused by the combination of alpha(0)-thalassemia with deletional alpha(+)-thalassemia, a combination referred to as 'deletional' Hb H disease. In a smaller proportion of patients, Hb H disease is caused by an alpha(0)-thalassemia plus an alpha(+)-thalassemia point mutation or small insertion/deletion. Such a situation is labeled 'nondeletional' Hb H disease. Patients with nondeletional Hb H disease are usually more anemic, more symptomatic, more prone to have significant hepatosplenomegaly, and more likely to require transfusions (summary by Lal et al., 2011).While most thalassemia-related hydrops fetalis is caused by the lack of all alpha-globin genes, there are reports of fetuses with Hb H disease that developed the hydrops fetalis syndrome; see {236750}.
Most common symptoms of HEMOGLOBIN H DISEASE; HBH
- Cognitive impairment
- Anemia
- Hepatomegaly
- Edema
- Splenomegaly
More info about HEMOGLOBIN H DISEASE; HBH
ALPHA-THALASSEMIA
Most common symptoms of ALPHA-THALASSEMIA
- Anemia
- Hepatomegaly
- Fatigue
- Splenomegaly
- Jaundice
More info about ALPHA-THALASSEMIA
SOURCES: OMIM
HEINZ BODY ANEMIA
Description
This is a form of nonspherocytic hemolytic anemia of Dacie type I (in vitro autohemolysis is not corrected by added glucose). After splenectomy, which has little benefit, basophilic inclusions called Heinz bodies are demonstrable in the erythrocytes. Before splenectomy, diffuse or punctate basophilia may be evident. Most of these cases are probably instances of hemoglobinopathy. The hemoglobin demonstrates heat lability.Heinz bodies are observed also with the Ivemark syndrome (asplenia with cardiovascular anomalies; {208530}).
Most common symptoms of HEINZ BODY ANEMIA
- Anemia
- Fever
- Abnormality of metabolism/homeostasis
- Jaundice
- Hemolytic anemia
More info about HEINZ BODY ANEMIA
HEMOGLOBIN M DISEASE
Alternate names
HEMOGLOBIN M DISEASE Is also known as m hemoglobinopathy
Description
Methemoglobinemia is a clinical condition in which more than 1% of hemoglobin is oxidized to methemoglobin, a type of hemoglobin that contains the ferric (Fe3+) form of iron. Patients with hemolobin M are cyanotic but otherwise asymptomatic. If the mutation occurs in the hemoglobin alpha subunit (OMIM ), cyanosis is apparent at birth, whereas if the beta chain is affected, cyanosis appears later or intensifies when beta subunit production increases. If a newborn carries a fetal M hemoglobin (gamma subunit; {142250}), cyanosis disappears when the complete gamma-beta-switch occurs (summary by Mansouri and Lurie, 1993).
Most common symptoms of HEMOGLOBIN M DISEASE
- Cyanosis
- Methemoglobinemia
More info about HEMOGLOBIN M DISEASE
METHEMOGLOBINEMIA, ALPHA TYPE
Description
Methemoglobinemia is a clinical condition in which more than 1% of hemoglobin is oxidized to methemoglobin, a type of hemoglobin that contains the ferric (Fe3+) form of iron. Patients with hemoglobin M are cyanotic but otherwise asymptomatic. If the mutation occurs in the hemoglobin alpha subunit, cyanosis is apparent at birth, whereas if the beta chain (OMIM ) is affected, cyanosis appears later or intensifies when beta subunit production increases. If a newborn carries a fetal M hemoglobin (gamma subunit; {142250}), cyanosis disappears when the complete gamma-beta-switch occurs (summary by Mansouri and Lurie, 1993).
Most common symptoms of METHEMOGLOBINEMIA, ALPHA TYPE
- Cyanosis
- Methemoglobinemia
More info about METHEMOGLOBINEMIA, ALPHA TYPE
SOURCES: OMIM
ERYTHROCYTOSIS, FAMILIAL, 7; ECYT7
Alternate names
ERYTHROCYTOSIS, FAMILIAL, 7; ECYT7 Is also known as polycythemia, alpha-globin type, erythrocytosis, alpha-globin type
Description
Familial erythrocytosis-7 is characterized by an increased oxygen affinity of hemoglobin (Hb), which results in decreased delivery of oxygen into the peripheral tissues and compensatory polycythemia. Patients are generally asymptomatic, as compensatory polycythemia assures normal oxygen tissue delivery. Patients have normal red cell morphology (summary by Kralovics and Prchal, 2000). Wajcman and Galacteros (2005) noted that although high oxygen affinity hemoglobins are usually well tolerated in young patients, they can lead to thrombotic complications in older patients or when they are associated with another cause that increases thrombotic risk. Wajcman and Galacteros (2005) also noted that the effect of increased oxygen affinity of Hb caused by an alpha chain variant is usually milder than that caused by a beta chain variant (see {617980}).
Most common symptoms of ERYTHROCYTOSIS, FAMILIAL, 7; ECYT7
- Polycythemia
- Angina pectoris
More info about ERYTHROCYTOSIS, FAMILIAL, 7; ECYT7
SOURCES: OMIM
HB BART'S HYDROPS FETALIS
Alternate names
HB BART'S HYDROPS FETALIS Is also known as alpha-thalassemia major, alpha-thalassemia hydrops fetalis, homozygous alpha0-thalassemia, hemoglobin bart's hydrops fetalis
Description
Hb Bart's hydrops fetalis is the most severe form of alpha-thalassemia (see this term) and is almost always lethal. It is characterized by fetal onset of generalized edema, pleural and pericardial effusions, and severe hypochromic anemia.
Most common symptoms of HB BART'S HYDROPS FETALIS
- Anemia
- Hepatomegaly
- Hydrocephalus
- Congestive heart failure
- Splenomegaly
More info about HB BART'S HYDROPS FETALIS
SOURCES: ORPHANET
Search interest in HBA1
Potential gene panels for HBA1 gene
GeneAware Complete Panel Version 2 (Female) Panel
United States.
By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Female) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
More info about this panel United States.
GeneAware Complete Panel Version 2 (Male) Panel
United States.
By Baylor Miraca Genetics Laboratories GeneAware Complete Panel Version 2 (Male) that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
More info about this panel United States.
GeneAware Basic Panel Version 2 (Female) Panel
United States.
By Baylor Miraca Genetics Laboratories GeneAware Basic Panel Version 2 (Female) that also includes the following genes: SMN1 CFTR DMD FMR1 HBA1 HBA2 HBB
More info about this panel United States.
GeneAware Basic Panel Version 2 (Male) Panel
United States.
By Baylor Miraca Genetics Laboratories GeneAware Basic Panel Version 2 (Male) that also includes the following genes: SMN1 CFTR HBA1 HBA2 HBB
More info about this panel United States.
GeneAware ACMG/ACOG Panel Version 2 (Male) Panel
United States.
By Baylor Miraca Genetics Laboratories GeneAware ACMG/ACOG Panel Version 2 (Male) that also includes the following genes: BLM SMN1 SMPD1 MCOLN1 CFTR FANCC GBA HBA1 HBA2 HBB
More info about this panel United States.
GeneAware ACMG/ACOG Panel Version 2 (Female) Panel
United States.
By Baylor Miraca Genetics Laboratories GeneAware ACMG/ACOG Panel Version 2 (Female) that also includes the following genes: BLM SMN1 SMPD1 MCOLN1 CFTR DMD FANCC FMR1 GBA HBA1
More info about this panel United States.
Alpha Globin Gene Sequencing Panel
United States.
By UCSF Molecular Diagnostics Laboratory University of California, San Francisco Alpha Globin Gene Sequencing that also includes the following genes: HBA1 HBA2
More info about this panel United States.
Alpha Thalassemia Panel
United States.
By UCSF Molecular Diagnostics Laboratory University of California, San Francisco Alpha Thalassemia that also includes the following genes: HBA1 HBA2
More info about this panel United States.
Alpha Thalassemia deletions Panel
United States.
By Molecular Genetics Diagnostic Laboratory Detroit Medical Center University Laboratories Alpha Thalassemia deletions that also includes the following genes: HBA1 HBA2
More info about this panel United States.
Alpha-Thalassemia, DNA Analysis Panel
Canada.
By Molecular Diagnostic Laboratory University of Alberta Alpha-Thalassemia, DNA Analysis that also includes the following genes: HBA1 HBA2
More info about this panel Canada.
HBA1/HBA2 and HBB Mutation Analysis Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center HBA1/HBA2 and HBB Mutation Analysis that also includes the following genes: HBA1 HBA2 HBB
More info about this panel United States.
Erythrocytosis Panel by next-generation sequencing (NGS) Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Erythrocytosis Panel by next-generation sequencing (NGS) that also includes the following genes: BPGM EGLN1 VHL EPAS1 EPOR HBA1 HBA2 HBB JAK2
More info about this panel United States.
Hypospadias Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Hypospadias Sequencing Panel that also includes the following genes: SALL1 BMP4 SOX2 SRD5A2 HNF1B MED12 WNT7A WT1 FBXL4 ZEB2
More info about this panel United States.
Alpha Globin (HBA1 and HBA2) Deletion/Duplication Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics Alpha Globin (HBA1 and HBA2) Deletion/Duplication that also includes the following genes: HBA1 HBA2
More info about this panel United States.
Alpha Thalassemia (HBA1 and HBA2) 7 Deletions Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics Alpha Thalassemia (HBA1 and HBA2) 7 Deletions that also includes the following genes: HBA1 HBA2
More info about this panel United States.
Alpha Globin (HBA1 and HBA2) Sequencing Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics Alpha Globin (HBA1 and HBA2) Sequencing that also includes the following genes: HBA1 HBA2
More info about this panel United States.
Hemoglobin Evaluation Reflexive Cascade Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics Hemoglobin Evaluation Reflexive Cascade that also includes the following genes: HBA1 HBA2 HBB
More info about this panel United States.
Alpha Globin (HBA1 and HBA2) Sequencing and Deletion/Duplication Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics Alpha Globin (HBA1 and HBA2) Sequencing and Deletion/Duplication that also includes the following genes: HBA1 HBA2
More info about this panel United States.
HBA. MLPA testing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the HBA1 gene.
More info about this panel Spain.
HBA1, HBA2. MLPA testing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica HBA1, HBA2. MLPA testing that also includes the following genes: HBA1 HBA2
More info about this panel Spain.
Alpha thalassemia Panel
United States.
By Molecular Diagnostics Laboratory University of Toledo Medical Center Alpha thalassemia that also includes the following genes: HBA1 HBA2
More info about this panel United States.
Alpha Thalassemia - HBA Deletion/Duplication Analysis Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Alpha Thalassemia - HBA Deletion/Duplication Analysis that also includes the following genes: HBA1 HBA2
More info about this panel United States.
Alpha Thalassemia - HBA Sequence Analysis Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Alpha Thalassemia - HBA Sequence Analysis that also includes the following genes: HBA1 HBA2
More info about this panel United States.
Alpha Thalassemia - HBA Known Point Mutation Analysis Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Alpha Thalassemia - HBA Known Point Mutation Analysis that also includes the following genes: HBA1 HBA2
More info about this panel United States.
Alpha-thalassemia (deletion/duplication analysis of HBA1 and HBA2 genes) Panel
Portugal.
By CGC Genetics Alpha-thalassemia (deletion/duplication analysis of HBA1 and HBA2 genes) that also includes the following genes: HBA1 HBA2
More info about this panel Portugal.
Alpha-thalassemia (sequence analysis of HBA1 and HBA2 genes) Panel
Portugal.
By CGC Genetics Alpha-thalassemia (sequence analysis of HBA1 and HBA2 genes) that also includes the following genes: HBA1 HBA2
More info about this panel Portugal.
Hemoglobinopathies (sequence analysis of HBA1, HBA2 and HBB genes) Panel
Portugal.
By CGC Genetics Hemoglobinopathies (sequence analysis of HBA1, HBA2 and HBB genes) that also includes the following genes: HBA1 HBA2 HBB
More info about this panel Portugal.
alpha thalassemai Panel
India.
By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital alpha thalassemai that also includes the following genes: HBA1 HBA2
More info about this panel India.
Hypospadias Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Hypospadias Sequencing Panel with CNV Detection that also includes the following genes: SALL1 BMP4 BMP7 SOX2 SRD5A2 HNF1B MED12 WNT7A WT1 FBXL4
More info about this panel United States.
Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Disorders of Sex Development (DSD) and Infertility Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP15 BMP4 SEMA3A SEMA3E BMP7 FOXL2 BRDT SOS1
More info about this panel United States.
Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Disorders of Sex Development (DSD) Sequencing Panel with CNV Detection that also includes the following genes: ROR2 SALL1 BMP15 BMP4 SEMA3A BMP7 FOXL2 SOS1 SOX10 SOX2
More info about this panel United States.
Alpha Thalassemia Deletion/Duplication and Constant Spring Panel Panel
United States.
By PreventionGenetics PreventionGenetics Alpha Thalassemia Deletion/Duplication and Constant Spring Panel that also includes the following genes: HBA1 HBA2
More info about this panel United States.
Alpha Thalassemia Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Alpha Thalassemia Sequencing Panel with CNV Detection that also includes the following genes: HBA1 HBA2
More info about this panel United States.
Alpha thalassemia HBA1-HBA2 Panel
Germany.
By MGZ Medical Genetics Center Alpha thalassemia HBA1-HBA2 that also includes the following genes: HBA1 HBA2
More info about this panel Germany.
Alpha Thalassemia Panel
Germany.
By Synlab MVZ Humane Genetik München Synlab MVZ Humane Genetik München Alpha Thalassemia that also includes the following genes: HBA1 HBA2
More info about this panel Germany.
Alpha Thalassemia Panel
India.
By GeneTech ATS GeneTech Private Limited
This panel specifically test the HBA1 gene.
More info about this panel India.
Thalassemia, alpha Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the HBA1 gene.
More info about this panel Germany.
alpha Thalassemia Panel
Germany.
By bio.logis Center for Human Genetics Diagnosticum alpha Thalassemia that also includes the following genes: HBA1 HBA2 HBB
More info about this panel Germany.
Erythrocytes, Anemia Panel Panel
Germany.
By CeGaT GmbH Erythrocytes, Anemia Panel that also includes the following genes: RPL11 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24 RPS26 RPS7 SEC23B
More info about this panel Germany.
Alpha-Thalassemia (HBA1/HBA2) Panel
Germany.
By MVZ Dortmund Dr. Eberhard & Partner Alpha-Thalassemia (HBA1/HBA2) that also includes the following genes: HBA1 HBA2
More info about this panel Germany.
Alpha-Thalassemia Panel
Estonia.
By Asper Biogene Asper Biogene LLC Alpha-Thalassemia that also includes the following genes: HBA1 HBA2
More info about this panel Estonia.
Alpha globin gene sequencing Panel
United States.
By Hemoglobinopathy Reference Laboratory UCSF Benioff Children's Hospital & Research Center Oakland Alpha globin gene sequencing that also includes the following genes: HBA1 HBA2
More info about this panel United States.
Capillary Zone Electrophoresis (Sebia) Panel
United States.
By Hemoglobinopathy Reference Laboratory UCSF Benioff Children's Hospital & Research Center Oakland Capillary Zone Electrophoresis (Sebia) that also includes the following genes: HBA1 HBA2 HBB HBD
More info about this panel United States.
Cellulose Acetate Electrophoresis Panel
United States.
By Hemoglobinopathy Reference Laboratory UCSF Benioff Children's Hospital & Research Center Oakland Cellulose Acetate Electrophoresis that also includes the following genes: HBA1 HBA2 HBB
More info about this panel United States.
Multiplex Gap PCR for alpha thalassemia deletions Panel
United States.
By Hemoglobinopathy Reference Laboratory UCSF Benioff Children's Hospital & Research Center Oakland Multiplex Gap PCR for alpha thalassemia deletions that also includes the following genes: HBA1 HBA2
More info about this panel United States.
MLPA (Multiplex Ligation-Dependent Probe Amplification) for ?-Globin cluster Panel
United States.
By Hemoglobinopathy Reference Laboratory UCSF Benioff Children's Hospital & Research Center Oakland MLPA (Multiplex Ligation-Dependent Probe Amplification) for ?-Globin cluster that also includes the following genes: HBA1 HBE1 HBZ
More info about this panel United States.
Alpha Globin gene Triplication Panel
United States.
By Hemoglobinopathy Reference Laboratory UCSF Benioff Children's Hospital & Research Center Oakland Alpha Globin gene Triplication that also includes the following genes: HBA1 HBA2
More info about this panel United States.
Alpha-Thalassemia (HBA) Panel
Belgium.
By Center for Human Genetics Cliniques Universitaires Saint Luc Alpha-Thalassemia (HBA) that also includes the following genes: HBA1 HBA2
More info about this panel Belgium.
Alpha-Thalassemia Panel
Austria.
By Praxis fuer Humangenetik Wien
This panel specifically test the HBA1 gene.
More info about this panel Austria.
Alpha-thalassaemia gene mapping Panel
Singapore.
By Molecular Diagnosis Centre National University Hospital Alpha-thalassaemia gene mapping that also includes the following genes: HBA1 HBA2
More info about this panel Singapore.
Family Prep Screen Panel
United States.
By Counsyl Family Prep Screen that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SLC12A6 SLC17A5 SLC22A5
More info about this panel United States.
qCarrier Plus Panel
Spain.
By Quantitative Genomic Medicine Laboratories, SL qCarrier Plus that also includes the following genes: RMRP RP2 RPE65 RPGR RPS6KA3 RS1 SACS SGCA SGCB SGSH
More info about this panel Spain.
Alpha-Thalassemia Panel
Slovakia.
By MedGene
This panel specifically test the HBA1 gene.
More info about this panel Slovakia.
Alfa Thalassemia: Deletion analysis (a3.7, a4.2, a20.5, aSEA, aFIL and aMED) Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Alfa Thalassemia: Deletion analysis (a3.7, a4.2, a20.5, aSEA, aFIL and aMED) that also includes the following genes: HBA1 HBA2
More info about this panel Spain.
Alfa Thalassemia: HBA1 gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the HBA1 gene.
More info about this panel Spain.
Alpha-Thalassemia: HBA1 and HBA2 Deletion Analysis Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Alpha-Thalassemia: HBA1 and HBA2 Deletion Analysis that also includes the following genes: HBA1 HBA2
More info about this panel United States.
Pan-Ethnic Carrier Screen: Gene Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Pan-Ethnic Carrier Screen: Gene Sequencing Panel that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SGCG SGSH SLC12A6
More info about this panel United States.
HBA1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the HBA1 gene.
More info about this panel United States.
Alpha-Globin Common Mutation Analysis Panel
United States.
By Quest Diagnostics Nichols Institute San Juan Capistrano Alpha-Globin Common Mutation Analysis that also includes the following genes: HBA1 HBA2
More info about this panel United States.
Alpha-Globin Common Mutation Analysis (NY) Panel
United States.
By Quest Diagnostics Nichols Institute San Juan Capistrano Alpha-Globin Common Mutation Analysis (NY) that also includes the following genes: HBA1 HBA2
More info about this panel United States.
Alpha-Globin Gene Deletion or Duplication (NY) Panel
United States.
By Quest Diagnostics Nichols Institute San Juan Capistrano Alpha-Globin Gene Deletion or Duplication (NY) that also includes the following genes: HBA1 HBA2
More info about this panel United States.
Alpha-Globin Gene Sequencing Panel
United States.
By Quest Diagnostics Nichols Institute San Juan Capistrano Alpha-Globin Gene Sequencing that also includes the following genes: HBA1 HBA2
More info about this panel United States.
Alpha-Globin Gene Deletion or Duplication Panel
United States.
By Quest Diagnostics Nichols Institute San Juan Capistrano Alpha-Globin Gene Deletion or Duplication that also includes the following genes: HBA1 HBA2
More info about this panel United States.
Alpha-Globin Gene Sequencing (NY) Panel
United States.
By Quest Diagnostics Nichols Institute San Juan Capistrano Alpha-Globin Gene Sequencing (NY) that also includes the following genes: HBA1 HBA2
More info about this panel United States.
Comprehensive Hematology Panel Panel
Finland.
By Blueprint Genetics Comprehensive Hematology Panel that also includes the following genes: RHAG RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26
More info about this panel Finland.
Anemia Panel Panel
Finland.
By Blueprint Genetics Anemia Panel that also includes the following genes: RHAG RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS29
More info about this panel Finland.
Alpha-Thalassemia Deletions Panel
Iran.
By Genomic Research Center Shahid Beheshti University of Medical Sciences
This panel specifically test the HBA1 gene.
More info about this panel Iran.
Alpha-thalassemia Panel
Spain.
By Bioarray
This panel specifically test the HBA1 gene.
More info about this panel Spain.
Alpha thalassemia - intellectual deficit syndrome linked to chromosome 16 Panel
Spain.
By Bioarray
This panel specifically test the HBA1 gene.
More info about this panel Spain.
Baby Genes Targeted Panel Panel
United States.
By Baby Genes Inc. Baby Genes Inc. Baby Genes Targeted Panel that also includes the following genes: BLM SLC22A5 SLC25A13 SLC5A5 SMPD1 BTD TAT TAZ TCN2 TG
More info about this panel United States.
Next Generation Sequencing for Jaundice Associated Genes Variation Test Panel
Taiwan.
By National Taiwan University Hospital A1 Center National Taiwan University Hospital Next Generation Sequencing for Jaundice Associated Genes Variation Test that also includes the following genes: BCS1L SCO1 SLC10A1 SLC40A1 SLCO1A2 SLCO1B1 SLCO1B3 SLCO2B1 SLC25A13 SUCLG1
More info about this panel Taiwan.
Alpha-Thalassemia Deletions Panel
Iran.
By Center for Comprehensive Genetic Services Shahid Beheshti University of Medical Sciences
This panel specifically test the HBA1 gene.
More info about this panel Iran.
ALPHA-THALASSEMIA Panel
Spain.
By Laboratorio de Genetica Clinica SL ALPHA-THALASSEMIA that also includes the following genes: HBA1 HBA2
More info about this panel Spain.
Alpha Thalassemia, Sequencing HBA1 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the HBA1 gene.
More info about this panel Spain.
Alpha Thalassemia Panel
Germany.
By Labor Dr. Wisplinghoff Alpha Thalassemia that also includes the following genes: HBA1 HBA2
More info about this panel Germany.
planTrue Extended Panel
United States.
By True Health Diagnostics planTrue Extended that also includes the following genes: RMRP RS1 BLM SLC17A5 SLC22A5 SLC26A2 SMN1 SMPD1 BTD TNNT1
More info about this panel United States.
planTrue ACOG & ACMG Screen Panel
United States.
By True Health Diagnostics planTrue ACOG & ACMG Screen that also includes the following genes: BLM SMN1 SMPD1 MCOLN1 CFTR FANCC GBA HBA1 HBA2 HBB
More info about this panel United States.
planTrue Standard Panel
United States.
By True Health Diagnostics planTrue Standard that also includes the following genes: BLM SMN1 SMPD1 CLRN1 MCOLN1 PCDH15 CFTR TMEM216 DLD FANCC
More info about this panel United States.
Sickle cell disease & Thalassemia: gene sequencing panel (RAPID testing) Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Sickle cell disease & Thalassemia: gene sequencing panel (RAPID testing) that also includes the following genes: HBA1 HBA2 HBB
More info about this panel Canada.
CEN4GEN rapid supplemental newborn genetic screen: Full gene sequencing panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN rapid supplemental newborn genetic screen: Full gene sequencing panel that also includes the following genes: BLM SLC22A5 SLC25A13 SLC5A5 SMPD1 BTD TAT TAZ TCN2 DUOX2
More info about this panel Canada.
CEN4GEN rapid pan-ethnic carrier screen: Full gene sequencing panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics CEN4GEN rapid pan-ethnic carrier screen: Full gene sequencing panel that also includes the following genes: BLM SLC22A5 SLC25A13 SLC5A5 SMPD1 BTD TAT TAZ TCN2 TG
More info about this panel Canada.
Alpha thalassemia: Full gene panel sequencing (Rapid testing) Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Alpha thalassemia: Full gene panel sequencing (Rapid testing) that also includes the following genes: HBA1 HBA2
More info about this panel Canada.
Hb H (3 gene deletion): Full gene panel sequencing (Rapid testing) Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Hb H (3 gene deletion): Full gene panel sequencing (Rapid testing) that also includes the following genes: HBA1 HBA2
More info about this panel Canada.
Hb Barts: Full gene panel sequencing (Rapid testing) Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Hb Barts: Full gene panel sequencing (Rapid testing) that also includes the following genes: HBA1 HBA2
More info about this panel Canada.
Hb H/Constant Spring disease : Full gene panel sequencing (Rapid testing) Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Hb H/Constant Spring disease : Full gene panel sequencing (Rapid testing) that also includes the following genes: HBA1 HBA2
More info about this panel Canada.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like GALT