Beta Thalassemia Mutation Detection, EDTA Blood

Beta-globin gene (HBB) sequencing is used to identify hemoglobin variants and  common beta thalassemia sequence variants, including β+ β0. In addition point mutations related to HbS/ HbE/ HbD/ HbC are also detected
Gene sequencing test is done when abnormal hemoglobin presence is suspected by the treating physician after review of Hb electrophoresis & red cell indices results 
Depending upon the type of mutation a patient may suffer from decrease synthesis of hemoglobin or complete absence. Patients with complete absence suffer from thalassemia major and consequently from serious form of disease; in contrast thalassemia intermedia have decreased production of hemoglobin and suffer from a milder from of disease

The two most prevalent beta-thalassemia lineages, beta plus and beta zero thalassemias, can be found via beta-globin gene (HBB) sequencing. Additionally, it identifies dominant beta-thalassemia sequence changes and hyper-unstable haemoglobin variations. This method can be used to find additional haemoglobin variations that protein-based methods are unable to find.

This test is performed when your doctor detects the existence of aberrant haemoglobin after reviewing the red cell index and haemoglobin electrophoresis results. Depending on the mutation, haemoglobin is either completely absent or may be present at low levels. Thalassemia major is a severe condition since the patients cannot produce haemoglobin. People with thalassemia intermedia, on the other hand, produce less haemoglobin and have a milder form of the disease.

Who Should Do the Beta-Thalassemia, Beta Globin (HBB) Gene Sequencing?

HBB test is recommended for individuals with:

• Clinical findings of anaemia and splenomegaly.
• Family history of thalassemia or hemoglobinopathy.
• Persistent haemolytic anaemia of unknown origin.
• Abnormal results on haemoglobin evaluation by electrophoresis or high-performance liquid chromatography (HPLC).
• Abnormal results on the complete blood count (CBC) test.
• Abnormal DNA tests for alpha and beta globins.

Written by: Dr Vishal Wadhwa, M.D, D.N.B Microbiology, Medical Affairs