HBD gene related symptoms and diseases
All the information presented here about the HBD gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to HBD gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Anemia | Uncommon - Between 30% and 50% 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 |
| Abnormality of blood and blood-forming tissues | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with HBD gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Hypochromic microcytic anemia
- Decreased mean corpuscular volume
- Abnormal hemoglobin
- Persistence of hemoglobin F
Rare diseases associated to HBD gene
Here you will find a list of rare diseases related to the HBD. 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
HEMOGLOBIN LEPORE-BETA-THALASSEMIA SYNDROME
Alternate names
HEMOGLOBIN LEPORE-BETA-THALASSEMIA SYNDROME Is also known as lepore-beta-thalassemia syndrome, hblepore-beta-thalassemia syndrome
More info about HEMOGLOBIN LEPORE-BETA-THALASSEMIA SYNDROME
SOURCES: ORPHANET
Search interest in HBD
Potential gene panels for HBD gene
HBD 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 HBD gene.
More info about this panel United States.
Hemoglobin Lepore (HBD/HBB Fusion) 3 Mutations Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics Hemoglobin Lepore (HBD/HBB Fusion) 3 Mutations that also includes the following genes: HBB HBD
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.
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.
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.
Multiplex Gap-PCR for beta thalassemia deletions Panel
United States.
By Hemoglobinopathy Reference Laboratory UCSF Benioff Children's Hospital & Research Center Oakland Multiplex Gap-PCR for beta thalassemia deletions that also includes the following genes: HBB HBD
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.
Hereditary Hemolytic Anemia Comprehensive Sequencing, Varies Panel
United States.
By Mayo Clinic Genetic Testing Laboratories Mayo Clinic Hereditary Hemolytic Anemia Comprehensive Sequencing, Varies that also includes the following genes: RHAG RPS19 SEC23B SLC2A1 SPTA1 SPTB TPI1 UGT1A1 XK CD59
More info about this panel United States.
HBD Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the HBD gene.
More info about this panel United States.
Delta Beta Thalassemia , Deletions (MLPA) HBD Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the HBD gene.
More info about this panel Spain.
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