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
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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

SOURCES: OMIM ORPHANET MESH

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


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

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

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

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

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

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

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

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

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

HBD Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the HBD gene.

More info about this panel

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


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