HBG1 gene related symptoms and diseases
All the information presented here about the HBG1 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 HBG1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Persistence of hemoglobin F | Common - Between 50% and 80% cases |
| Anemia | Common - Between 50% and 80% cases |
| Hemolytic anemia | Uncommon - Between 30% and 50% cases |
| Postural instability | Uncommon - Between 30% and 50% cases |
| Microcytic anemia | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with HBG1 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Abnormality of blood and blood-forming tissues
- Hypochromic microcytic anemia
- Decreased mean corpuscular volume
- Abnormal hemoglobin
- Hepatomegaly
- Splenomegaly
- Pallor
- Abnormal bone structure
Rare diseases associated to HBG1 gene
Here you will find a list of rare diseases related to the HBG1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
DELTA-BETA-THALASSEMIA
Alternate names
DELTA-BETA-THALASSEMIA Is also known as hemoglobin f, hereditary persistence of, hereditary persistence of fetal hemoglobin, hb gene cluster-related, hpfh
Description
Delta-beta-thalassemia is a form of beta-thalassemia (see this term) characterized by decreased or absent synthesis of the delta- and beta-globin chains with a compensatory increase in expression of fetal gamma-chain synthesis.
Most common symptoms of DELTA-BETA-THALASSEMIA
- Anemia
- Hemolytic anemia
- Postural instability
- Microcytic anemia
- Abnormality of blood and blood-forming tissues
More info about DELTA-BETA-THALASSEMIA
HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN-BETA-THALASSEMIA SYNDROME
Alternate names
HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN-BETA-THALASSEMIA SYNDROME Is also known as hpfh-beta-thalassemia syndrome
Description
Hereditary persistence of fetal hemoglobin (HPFH) associated with beta-thalassemia (see this term) is characterized by high hemoglobin (Hb) F levels and an increased number of fetal-Hb-containing-cells.
Most common symptoms of HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN-BETA-THALASSEMIA SYNDROME
- Anemia
- Hepatomegaly
- Splenomegaly
- Pallor
- Persistence of hemoglobin F
More info about HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN-BETA-THALASSEMIA SYNDROME
SOURCES: ORPHANET
HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN-SICKLE CELL DISEASE SYNDROME
Alternate names
HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN-SICKLE CELL DISEASE SYNDROME Is also known as hpfh-sickle cell disease syndrome
Description
A rare, genetic, hemoglobinopathy characterized by generally mild clinical phenotype, high fetal hemoglobin levels and mild microcytosis and hypochromia. In some cases, acute sickle cell disease manifestations were reported, namely acute chest syndrome and acute pain crisis.
More info about HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN-SICKLE CELL DISEASE SYNDROME
SOURCES: ORPHANET
Search interest in HBG1
Potential gene panels for HBG1 gene
HBG1/2 coding region and promoter sequencing Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the HBG1 gene.
More info about this panel United States.
Beta Globin (HBB) Deletion/Duplication Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics Beta Globin (HBB) Deletion/Duplication that also includes the following genes: HBB HBD HBE1 HBG1 HBG2
More info about this panel United States.
Hereditary Persistance of Fetal Hemoglobin - HBG1 and HBG2 Sequence Analysis of G-Gamma and A-Gamma Globin Genes Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Hereditary Persistance of Fetal Hemoglobin - HBG1 and HBG2 Sequence Analysis of G-Gamma and A-Gamma Globin Genes that also includes the following genes: HBG1 HBG2
More info about this panel United States.
Hereditary Persistance of Fetal Hemoglobin - HBG1 and HBG2 Known Point Mutation Analysis Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Hereditary Persistance of Fetal Hemoglobin - HBG1 and HBG2 Known Point Mutation Analysis that also includes the following genes: HBG1 HBG2
More info about this panel United States.
Gamma globin gene sequencing Panel
United States.
By Hemoglobinopathy Reference Laboratory UCSF Benioff Children's Hospital & Research Center Oakland Gamma globin gene sequencing that also includes the following genes: HBG1 HBG2
More info about this panel United States.
MLPA (Multiplex Ligation-Dependent Probe Amplification) for ?-globin gene cluster Panel
United States.
By Hemoglobinopathy Reference Laboratory UCSF Benioff Children's Hospital & Research Center Oakland MLPA (Multiplex Ligation-Dependent Probe Amplification) for ?-globin gene cluster that also includes the following genes: HBB HBD HBG1 HBG2
More info about this panel United States.
Multiplex Gap PCR for HPFH and Hb Lepore (Hollandia, Washington- Boston, Baltimore) Panel
United States.
By Hemoglobinopathy Reference Laboratory UCSF Benioff Children's Hospital & Research Center Oakland Multiplex Gap PCR for HPFH and Hb Lepore (Hollandia, Washington- Boston, Baltimore) that also includes the following genes: HBB HBD HBG1 HBG2
More info about this panel United States.
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