Abstract
We have studied a few members of two Turkish families, who had a βthalassemia of the intermediate type. An abnormal hemoglobin was found in both families, which when present in association with βdeg;thalassemia was considered to be the primary cause for the increased severity of the disease. In the first family this variant was Hb Knossos [β27(B9)Ala→Ser] which occurred together with the frameshift in codon 8 type of βdeg;thalassemia. This compound heterozygosity, observed for the first time in the Turkish population was characterized by a considerable increase in Hb F production, mainly of the Gγ type, as expected for a chromosome with haplotype IV. In the second family, the variant was Hb City of Hope [β69(E13)Gly→Ser] which was present in combination with an unknown type of βthalassemia. The increase in Hb F production in the compound heterozygote was minimal. Reversed phase high performance liquid chromatography and the DNA amplification-synthetic oligonucleotide probe procedure were major tools in identifying the different abnormalities.
Original language | English (US) |
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Pages (from-to) | 7-16 |
Number of pages | 10 |
Journal | Hemoglobin |
Volume | 13 |
Issue number | 1 |
DOIs | |
State | Published - 1989 |
ASJC Scopus subject areas
- Hematology
- Genetics(clinical)
- Clinical Biochemistry
- Biochemistry, medical