β-Thalassemia Intermedia in Two Turkish Families is Caused by the Interaction of HB Knossos [β27(B9)ALA→SER] and of HB City of hope [β69(E13)Gly→Ser] with B°-Thalassemia

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Abstract
We have studied a few members of two Turkish families, who had a .beta.-thalassemia of the intermediate type. An abnormal hemoglobin was found in both families, which when present in association with .beta..degree.-thalassemia was considered to be the primary cause for the increased severity of the disease. In the first family this variant was Hb Knossos [.beta.27(B9)Ala.fwdarw.Ser] which occurred together with the frameshift in codon #8 type of .beta..degree.-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 G.gamma. type, as expected for a chromosome with haplotype IV. In the second family, the variant was Hb City of Hope [.beta.69(E13)Gly.fwdarw.Ser] which was present in combination with an unknown type of .beta.-thalassemia. 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.