HBG2 gene related symptoms and diseases

All the information presented here about the HBG2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to HBG2 gene

Symptoms // Phenotype % Cases
Anemia Common - Between 50% and 80% cases
Hepatomegaly Uncommon - Between 30% and 50% cases
Persistence of hemoglobin F Uncommon - Between 30% and 50% cases
Microcytic anemia Rare - less than 30% cases
Abnormality of blood and blood-forming tissues Rare - less than 30% cases

Other less frequent symptoms and clinical features

Patients with HBG2 gene alterations may also develop some of the following symptoms and phenotypes:
  • Rarely - Less than 30% cases

  • Hypochromic microcytic anemia
  • Decreased mean corpuscular volume
  • Abnormal hemoglobin
  • Hemolytic anemia
  • Postural instability
  • Splenomegaly
  • Pallor
  • Abnormal bone structure

And 4 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to HBG2 gene

Here you will find a list of rare diseases related to the HBG2. 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

CYANOSIS, TRANSIENT NEONATAL; TNCY


Description

Neonatal cyanosis is characterized by symptoms in the fetus and neonate that gradually abate by 5 to 6 months of age. The disorder is caused by a defect in the fetal hemoglobin chain, which causes reduced affinity for oxygen due to steric inhibition of oxygen binding and/or due to increased oxidation of the fetal hemoglobin molecule to methemoglobin (Hb FM), which has decreased oxygen-binding capacity. Some patients develop anemia resulting from increased destruction of red cells containing abnormal or unstable hemoglobin. The cyanosis resolves spontaneously by 5 to 6 months of age or earlier, as the adult beta-globin chain (HBB ) is produced and replaces the fetal gamma-globin chain (summary by Crowley et al., 2011).

Most common symptoms of CYANOSIS, TRANSIENT NEONATAL; TNCY

  • Anemia
  • Hepatomegaly
  • Jaundice
  • Cyanosis
  • Reticulocytosis


More info about CYANOSIS, TRANSIENT NEONATAL; TNCY

SOURCES: OMIM

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

HEMOGLOBINOPATHY TOMS RIVER


Alternate names

HEMOGLOBINOPATHY TOMS RIVER Is also known as transient neonatal cyanosis and anemia due to toms river hemoglobin

Description

Hemoglobinopathy Toms River is a rare, genetic hemoglobinopathy disorder, due to a defect in the gama subunit of the fetal hemoglobin, characterized by neonatal cyanosis, low hemoglobin oxygen saturation levels without arterial hypoxemia, moderate anemia and reticulocytosis, not associated with heart or lung disease. Symptoms progressively subside within the first months of life.


More info about HEMOGLOBINOPATHY TOMS RIVER

SOURCES: ORPHANET


Potential gene panels for HBG2 gene

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

Hereditary persistence of fetal hemoglobin Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the HBG2 gene.

More info about this panel

Cyanosis, transient neonatal Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the HBG2 gene.

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

HBG2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the HBG2 gene.

More info about this panel


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