Haemoglobin Variants

Sample: Blood (EDTA) 0.5 mL

Schedule: Daily (HPLC UV)

Units: % of total Hb

Range: See Ref. table

Remarks: Hemoglobin consists of four polypeptide chains called globins and one heme molecule bound to each globin. Different genetic defects may lead to abnormalities of hemoglobin: structural defects, thalassaemic syndromes and the hereditary persistence of foetal Hb. Abnormal hemoglobin shows decreased function of different severity and, depending on the type of hemoglobinopathy, tendencies towards promoting vaso-occlusion (clogging of blood vessels) by erythrocytes. Among the most severe clinical expressions are syndromes such as sickle cell anaemia, hypo-chromic anaemia and familiar cyanose. These syndromes may be caused by different mutations and an adequate therapy requires the exact identification of the hemoglobinopathy. Some of these will not be eliminated by symptomatic therapy such as blood transfusion, but require laborious approaches such as bone marrow transplantation. However, carriers of the genetic defects may minimize the manifestation of the disease by an adapted lifestyle, thus an early diagnosis, especially for children, is of paramount importance. The most reliable procedure for the assessment of all Hb Variants is the HPLC technique.

HPLC CHromatogram for Hb Variants


Available tests