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
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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

SOURCES: OMIM ORPHANET MESH

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


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

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

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

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

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

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


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