The 18- to 23-kb deletion of the Macedonian delta beta-thalassemia includes the entire delta and beta globin genes.
Restriction endonuclease mapping analyses were made of DNA from a few members of a Macedonian family with hematological characteristics of delta beta-thalassemia, ie, microcytosis, normal HbA2 levels, and elevated levels of HbF (7% to 14%) with G gamma (average 40.5%) and A gamma T chains (average 59.5%). A large deletion of 18 to 23 kb was present with a 5' breakpoint within a 670-bp segment of DNA between the HpaI and NcoI restriction sites 5' to the delta globin gene, and a 3' breakpoint between the BamHI and HpaI restriction sites located some 9 to 13 kb 3' to the beta globin gene. This deletion is different from those present in other types of G gamma A gamma(delta beta)zero-thalassemia. The similarity of the hematological expression of these delta beta-thalassemic conditions which have somewhat comparable 5' breakpoints supports the idea that an important fetal hemoglobin-controlling region lies between the psi beta and delta globin genes.
D002872:Chromosome Deletion; D002874:Chromosome Mapping; D005914:Globins / Q000235:genetics*; D006801:Humans; D010641:Phenotype; D012150:Polymorphism, Restriction Fragment Length; D013789:Thalassemia / Q000235:genetics*; D015022:Yugoslavia
D005914:Globins