Two new hemoglobin variants: Hb Sinai-Greenspring [beta34(B16)Val-->Ile, GTC > ATC] and Hb Sinai-Bel Air [beta53(D4)Ala-->Asp, GCT > GAT].

Neonatal screening for hemoglobinopathies occasionally results in the detection of novel hemoglobin (Hb) variants. Two heterozygous infants were found with different beta chain mutations, neither of which produced obvious clinical or laboratory abnormalities on routine examinations. The variants were characterized by cation exchange high performance liquid chromatography (HPLC), reversed phase HPLC, and sequencing of amplified beta-globin genes.

Hb J- Meerut [alpha 120 (H3) Ala ->Glu (alpha1)] in a Turkish male.

Hb J Meerut is an infrequently found alpha-globin variant. It has previously been reported in various populations around the world. One particular case reported in 1994 included a Turkish family.

A novel approach to rapid determination of betaS-globin haplotypes: sequencing of the Agamma-IVS-II region.

beta-Globin gene cluster haplotypes were originally determined by restriction endonuclease mapping with Southern blots of polymorphic sites around the gene cluster. Over the years, haplotyping has been found to be useful, not only in population genetics but also in predicting the severity of hemoglobinopathies such as sickle cell disease. The sickle mutation occurs on five distinct haplotypes.