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Hb Warsaw (β42 Phe → Val): An unstable hemoglobin with decreased oxygen affinity. I. Hematologic and clinical expression
Author(s) -
Honig George R.,
Telfer Margaret C.,
Rosenblum Barnett B.,
Vida Loyda N.
Publication year - 1989
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/ajh.2830320108
Subject(s) - hemoglobin , methemoglobin , heinz body , hemolytic anemia , fetal hemoglobin , red cell , medicine , anemia , methemoglobinemia , red blood cell , endocrinology , chemistry , biochemistry , biology , fetus , genetics , pregnancy
Four members in two generations of a Polish‐American family exhibited findings of congenital Heinz‐body hemolytic anemia accompanied by cyanosis. Two of the affected family members have also developed severe pulmonary hypertension, with a fatal outcome in one of them. Blood from the affected individuals showed decreased oxygen affinity and contained elevated levels of methemoglobin. An unstable hemoglobin fraction underwent rapid precipitation following exposure of the red cell lysates to isopropyl alcohol or heat. This hemoglobin contained a newly identified abnormal β chain with an amino acid substitution at the same position as that of Hb Hammersmith and Hb Bucuresti‐Louisville.