You are using an outdated browser. Please upgrade your browser to improve your experience.

alpha thalassemia

Disease Summary
Associated Targets (3)
Tbio

2

Tclin

1


GARD Rare
Mondo Description Alpha-thalassemia is an inherited hemoglobinopathy characterized by impaired synthesis of alpha-globin chains leading to a variable clinical picture depending on the number of affected alleles.
Uniprot Description A form of thalassemia. Thalassemias are common monogenic diseases occurring mostly in Mediterranean and Southeast Asian populations. The hallmark of alpha-thalassemia is an imbalance in globin-chain production in the adult HbA molecule. The level of alpha chain production can range from none to very nearly normal levels. Deletion of both copies of each of the two alpha-globin genes causes alpha(0)-thalassemia, also known as homozygous alpha thalassemia. Due to the complete absence of alpha chains, the predominant fetal hemoglobin is a tetramer of gamma-chains (Bart hemoglobin) that has essentially no oxygen carrying capacity. This causes oxygen starvation in the fetal tissues leading to prenatal lethality or early neonatal death. The loss of two alpha genes results in mild alpha-thalassemia, also known as heterozygous alpha-thalassemia. Affected individuals have small red cells and a mild anemia (microcytosis). If three of the four alpha-globin genes are functional, individuals are completely asymptomatic. Some rare forms of alpha-thalassemia are due to point mutations (non-deletional alpha-thalassemia).
Disease Ontology Description Alpha thalassemia is a thalassemia involving the genes HBA1and HBA2 hemoglobin genes.
Mondo Term and Equivalent IDs
MONDO:0011399:  alpha thalassemia
COHD:4287844: 
GARD:0000621: 
ICD10:D56.0: 
MESH:D017085: 
NCIT:C34368: 
Orphanet:846: 
SCTID:68913001: 
UMLS:C0002312: