Thalassemia major or Beta Thalassemia

The thalassemias are a group of genetically (inherited) blood disorders that share in common one feature; the defective production of hemoglobin which is the protein that enables red blood cells to carry and deliver oxygen. There are many different mechanisms of defective hemoglobin synthesis and, hence, many types of thalassemia.

Beta Thalassemia is caused by an absence or decreased synthesis of the beta globin chains of hemoglobin. Individuals with beta thalassemia trait or beta thalassemia minor are heterozygous for beta thalassemia, or simply a carrier of beta-thalassemia. Individuals with beta thalassemia major are homozygous for beta-thalassemia and thus have two copies of the defective gene and develop the disease: thalassemia major. The complete absence of the gene is described as β0 thalassemia and reduced synthesis as β+. The decrease in beta-globin leads to a relative excess in α globin chains.

Last modified
8 May 2020
OMIM

# 613985 BETA-THALASSEMIA

ORPHA

ORPHA:231214 Beta-thalassemia major

Patient Organization

June 2017 Sororya Beacher, Oscar Netherlands

As chairman of the sickle cell organization in the Netherlands, a trained ICU nurse, and nurse tutor this has given...

General Medical Guideline
Treatment for thalassemia has dramatically improved. People with thalassemia should live full lives with careers and children of their own. Unfortunately, many patients die prematurely...
Disease
Symptom
Β thalassemia screening by HPLC pattern. When β thalassemia is suspected usually additional tests are performed to confirm the diagnosis. Ultimately it would be best...
Related family members with elevated HbA2 In carrier screening for the classical beta-thalassemia trait, the hallmark is the presence of an elevated level of HbA...
Splenomegaly (enlarged spleen) is common in thalassemia major and intermedia due to the high rate of hemolysis (red blood cell destruction). The spleen detects the...
Anemia as a symptom of Thalassemia major. Children with Thalassemia Major present with anemia around the age of 4-5 months. While the normal total Hb...
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