Familial Polycythaemia Caused by a New Haemoglobin Variant: Hb Heathrow,   103 (G5) Phenylalanine Leucine

Hb Malmö [β-97(FG-4)His→Gln] leading to polycythemia in a Dutch family

“…It has been postulated by Wade et al [26] that increased blood flow reduces the risk of thrombosis in patients with Hb Yakima (a high O 2 affinity mutant induced by a substitution Asp]His at position b-99). Individual cases of vascular obstructions or transitory brain ischemia in the presence of high oxygen affinity Hb mutants have been reported [7,25,28,30], but substantial data on this matter are limited.…”

Identification of high oxygen affinity hemoglobin variants in the investigation of patients with erythrocytosis

“…Those patients negative for a β chain variant were further screened for an alpha globin gene variant. Four different high oxygen affinity Hb variants, Olympia (β20Va→Met), 1,6,7 Pierre-Benite (β90Glu→Asp), 6,8 Santa Clara (β97His→Asn) 6,9 and Heathrow (β103Phe→Leu), 6,10 were detected in 6 families from a data base of 205 individuals giving a prevalence of 3%. All are electrophoretically silent and hence difficult to detect by routine laboratory tests.…”

A method for isolation of abnormal haemoglobins with high oxygen affinity due to a frozen quaternary R‐structure: Application to Hb creteil α2Aα2 (F5) 89 ASN

“…At the present time 12 different haemoglobin variants have been reported [ [4] cannot be separated from haemoglobin A by electrophoresis or chromatography since these haemoglobins are due to a neutral amino acid substitution. Since such abnormal haemoglobins are relatively frequent, we have tried to develop a new genera1 method for their separation.…”