IllnessThalassaemia beta

NGS +

Sanger

Beta thalassemia is characterised by deficient or missing synthesis of the beta-globin chain of haemoglobin. The classification of beta thalassemias is based on clinical criteria into beta thalassemia minor (heterozygous form), beta thalassemia major (homozygous or mixed-heterozygous form) and beta thalassemia intermedia (usually homozygous or mixed-heterozygous form with additional genetic factors that lead to a reduction in the symptoms typical of thalassemia major). Changes in the aminoacid sequence of the beta-globin protein cause virtually always unusual electrophoretic separation patterns in the hemoglobin electrophoresis. HBB gene sequencing is mandatory for pregnant women with anemia due to iron deficiency and concurrent suspicion for thalassemia. The cause of beta thalassemia is always a mutation in the HBB gene.

Reference: https://register.awmf.org/assets/guidelines/025-017l_S1_Thalassaemien_2023-02_1.pdf

• Alias: Beta Thalassämie
• Alias: Beta-thalassemia
• Allelic: Delta-beta thalassemia (HBB)
• Allelic: Erythrocytosis 6 (HBB)
• Allelic: Heinz body anemia (HBB)
• Allelic: Hereditary persistence of fetal hemoglobin (HBB)
• Allelic: Malaria, resistance to (HBB)
• Allelic: Methemoglobinemia, beta type (HBB)
• Allelic: Sickle cell anemia (HBB)
• Allelic: Thalassemia-beta, AD inclusion-body (HBB)
• Thalassemia, beta (HBB)