Beta-thalassemia (β-thalassemia)
Beta-thalassemia is caused by reduced activity of beta-globin genes resulting in hypochrome, microcytic anemia of varying degree.
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*3 ml EDTA blood (blood count tube), **7.5 ml serum, ***7.5 ml EDTA blood (extra tube)
beta-thalassemia: Overview
Beta-(β-)thalassemia results from the partial (b+) or complete (b0) failure of one or both beta-globin genes (HBB) and are thus due to a quantitative disorder of beta-globin chain synthesis. The beta-globin genes are organized on chromosome 11 in the beta-globin gene complex with other relatives of the beta-globin genes such as the gamma- (HBG1, HBG2) and the delta-globin genes (HBD).
The clinical picture of beta-thalassemia ranges from asymptomatic carriers with mild hematopoietic changes (beta-thalassemia minor), to hypochromic, microcytic anemia of varying degrees (beta-thalassemia intermedia), to transfusion dependency (beta-thalassemia major). The clinical picture is mainly determined by the number of disrupted beta-globin genes and their residual activity:
Genotype |
Genetic classification |
Clinical diagnosis |
Symptoms |
Hb |
MCH |
Hb separation |
b/b |
Wild-type |
Normal findings |
No pathology |
Normal |
Normal |
Normal |
b/b+ |
Heterozygous beta-thalassaemia |
β-thalassaemia minor |
Microcytosis and hypochromia, possibly low grade anemia. |
♀ 9 - 13 g/dl |
19 - 25 pg |
HbA2 >3,2% |
b+/b+ |
Mild homozygous or compound heterozygous beta-thalassaemia |
β-thalassaemia intermedia |
Microcytic, hypochromic, with varying requirement of transfusion. |
6 - 10 g/dl |
15 - 23 pg |
HbA2 varying |
b0/b0 |
Homozygous or compound heterozygous |
β-thalassaemia major |
Microcytic, hypochromic, with regular requirement of transfusion. |
<7 g/dl |
14 - 20 pg |
HbA2 varying |
beta-thalassemia: Diagnosis
Diagnosis or exclusion of beta-thalassemia is made by a combination of blood count, iron status, hemoglobin separation, and molecular genetic testing.
beta-Thalassemia: Therapy
Therapy for beta-thalassemia is according to clinical classification and symptomatology.
Current recommendations and guidelines for therapy can be found at:
AWMF: https://www.awmf.org/leitlinien/detail/ll/025-017.html
Onkopedia: https://www.onkopedia.com/de/onkopedia/guidelines/beta-thalassaemie/
Status: April 2024