Hb Sallanches [alpha104(G11)Cys-->Tyr, TGC-->TAC (alpha2)]: an unstable hemoglobin variant found in an Indian child.
We report the fourth observation of Hb Sallanches [alpha104(G11)Cys-->Tyr, TGC-->TAC (alpha2)], an unstable alpha chain variant of intermediate severity in the homozygous state. Heterozygosity occasionally produces mild hypochromia and microcytosis in some patients. A balanced beta/alpha ratio, found in previously reported cases, points to unstable alphabeta dimers formed as a result of the Cys-->Tyr substitution at the alpha1beta1 contact site in this hemoglobin (Hb) variant. Our patient, and the previous two of the three cases reported in patients of Pakistani origin, points to a common population stock, separated by the mass population migration which occurred during the partition of Pakistan and India in 1947.
Dash
Sumitra
S
Department of Haematology, Post Graduate Institute of Medical Education and Research, Chandigarh, India. sumitradash2001@yahoo.com
Harano
Keiko
K
Menon
Santosh
S
D002648:Child; D005914:Globins / Q000737:chemistry / Q000235:genetics*; D006366:Heinz Bodies / Q000473:pathology; D006453:Hemoglobinopathies / Q000175:diagnosis / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000737:chemistry / Q000235:genetics*; D006801:Humans; D008297:Male; D017354:Point Mutation / Q000235:genetics
D006455:Hemoglobins, Abnormal; C406703:hemoglobin Sallanches; D005914:Globins