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Analysis of DNA from members of a Melanesian family from Papua New Guinea with haemoglobin (Hb) H disease revealed that all four alpha globin genes are intact in affected subjects. Study of restriction enzyme site and length polymorphisms and the use of oligonucleotide probes indicated that the molecular basis of this Papuan form of non-deletion Hb H disease differs from the previously described Middle Eastern and Mediterranean types.

Original publication

DOI

10.1136/jmg.24.12.767

Type

Journal article

Journal

J Med Genet

Publication Date

12/1987

Volume

24

Pages

767 - 771

Keywords

Female, Genotype, Humans, Male, Papua New Guinea, Polymorphism, Restriction Fragment Length, Thalassemia