alpha thalassemia

(redirected from a thalassemia)

α thal·as·se·mi·a

thalassemia due to one of two or more genes that depress (severely or moderately) synthesis of α-globin chains by the chromosome with the abnormal gene. Heterozygous state: severe type, thalassemia minor with 5-15% of Hb Bart at birth, only traces of Hb Bart in adult; mild type, 1-2% of Hb Bart at birth, not detectable in adult. Homozygous state: severe type, erythroblastosis fetalis and fetal death, only Hb Bart and Hb H present; mild type not clinically defined.
See also: hemoglobin H.
References in periodicals archive ?
They added that the club had provided Thalassemia diagnostic machine in a Thalassemia Centre from where the couple could go for pre-marital test.
He said that with a thalassemia, the red blood cells (RBCs) are destroyed at a faster rate, leading to anemia, a condition that can cause fatigue and other complications.
Mirah, a Thalassemia Centre patient, was crowned "Snow White" princess for one day.
Pre-marital check Pre-marital blood tests are an important preventive step for Thalassemia, which minimize the possibility of becoming a Thalassemia victim, according to the Yemeni Association for Thalassemia.
There are two Thalassemia centers in Damascus and Aleppo and a Thalassemia unit in each of the Syrian provinces.
oYou cannot have a successful preventive programme without prenatal diagnosis which is the new approach to identify the genetic makeup of a foetus and its chances of being a thalassemia carrier or patient.
Some [beta]-chain hemoglobin variants manifest as a reduction of total hemoglobin production, resulting in a thalassemia major phenotype when inherited with a [[beta].
Genetic testing and birth screening are recommended for families that carry a thalassemia trait.
In the heterozygous form (thalassemia trait), the syndromes present as a thalassemia minor phenotype characterized by microcytosis with varying degrees of anemia.
FAISALABAD -- A thalassemia institute and blood bank is being set up with an estimated cost of Rs 30 million in Government General Hospital Ghulam Muhammad Abad (GMA).
In the case of Hb E, the mutation at codon 26 of the [beta]-globin gene causes a substitution of glutamic acid by lysine and also activates a cryptic mRNA splice site, resulting in the reduced synthesis of the [beta]-E chain, leading to a thalassemia pheno-type.