MUTATION | Codons 74/75 (-C); GGC·CTG(Gly·Leu)->GG-·CTG | ||
---|---|---|---|
AMINO ACID REPLACEMENT | None | ||
TYPE OF BETA-THAL | beta° | ||
MECHANISM | The loss of a C creates a change in the reading frame resulting in a premature termination of translation because of a stop codon at codon 88 (TGA) | ||
IDENTIFICATION | Amplification of DNA; sequencing | ||
HEMATOLOGY IN HETEROZYGOTE(S) | Both parents have the codons 74/75 (-C) heterozygosity; mild anemia with microcytosis and hypochromia; Hb A2 5.1-5.8%; MCV 65-68 fl | ||
HEMATOLOGY IN HOMOZYGOTE(S) | Severe anemia; transfusion dependency | ||
OCCURRENCE | In a 6-year-old Turkish boy; he is a homozygote | ||
HAPLOTYPE | Not reported | ||
FOUND IN COMBINATION WITH ABNORMAL HB(S) | None | ||
FOUND IN COMBINATION WITH BETA-THAL ALLELE(S) | None | ||
OTHER INFORMATION | Patient was splenectomized at the age of 5 years |
REFERENCES | |||
1. | Basak, A.N., Özer, A., Özçelik, ., Kirdar, B., and Gürgey, A.: Hemoglobin, 16:309, 1992. |