INTRODUCTIONThe thalassemias (thals) are a group of inherited hemoglobic disorders resulting from defects in the synthesis of one or more of the hemoglobin chains. According to the type of globin involved, thalassemia can be divided into α‐, β‐, δβ‐thal and hereditay persistence of fetal haemoglobin (HPFH). Two types of the determinants for δβ‐thal or HPFH, namely, the deletional and nondeletional types, have been classified on the basis of extensive molecular studies. (δβ)0‐thal and HPFH are caused by large deletions in the β‐globin cluster involving δ‐ and β‐globin genes, with or without Aγ‐globin genes. These mutations are characterized by high fetal haemoglobin (Hb F) levels in adult. Heterozygotes for δβ‐thal have hypochromic microcytic red cells with the levels of Hb F ranging from 5% to 20%, and, in contrast, HPFH heterozygotes have normal blood indices with higher Hb F (15%‐30%). Homozygotes for (δβ)0‐thal and compound heterozyotes for (δβ)0‐thal with β‐thal usually lead to a clinical phenotype of thal intermedia or major. Though, HPFH homozygotes are clinically asymptomatic, compound heterozyotes for HPFH with β‐thal express the phenotype thal intermedia. Furthermore, there are different types of (δβ)0‐thal or HPFH deletions have been reported in different ethnic groups and different regions. Therefore, well‐known
Journal of Clinical Laboratory Analysis – Wiley
Published: Jan 1, 2018
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