An Indonesian Case of Compound Heterozygote for Hemoglobin E and Deletion C at Nucleotide 391 of the B - Globin Gene
نویسنده
چکیده
HemoglobinE (HbE), havin| the substitutionof glutamic acidwithlysineat the 26thamino acidresidue onp-globin, is the most common mutaion of the p-globin gei" in South East Asia. A compound heteroqgote of this mutation with another mutation in the $-globin gene Iead.s to o'rrrr)r"h"^otyi, disease known as hemoglobin Et\-thalnssemia d.isease, where repeated blood transfusions are neededIn an Ind.onesian girl showing severe anemia and higi levels of HbF and HbAz/HbE, the sequences of the p-globin gene were analyzed using an automatic DNA iequencer. The results showed one allele had G to A mutation at nucleotide (nt) 232 which resulted in the subitiution of glutamic acii with lysine at codon 26 resulting in HbE; in the other allele del.etion C at nt 391 was identified. This is a case report of a compound heterozygote of HbE and a deletion of C at nt 39 t in the p+halassemia region which showed severe anemia.
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