Hb Warsaw (beta 42 Phe----Val): an unstable hemoglobin with decreased oxygen affinity. I. Hematologic and clinical expression

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 individ...

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Bibliographic Details
Published inAmerican journal of hematology Vol. 32; no. 1; p. 36
Main Authors Honig, G R, Telfer, M C, Rosenblum, B B, Vida, L N
Format Journal Article
LanguageEnglish
Published United States 01.09.1989
Subjects
Adult
Amino Acid Sequence
Anemia, Hemolytic - blood
Anemia, Hemolytic - genetics
Chronic Disease
Cyanosis - blood
Cyanosis - genetics
Drug Stability
Hemoglobins - analysis
Hemoglobins, Abnormal - metabolism
Humans
Male
Oxygen - blood
Pedigree
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Summary: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 beta chain with an amino acid substitution at the same position as that of Hb Hammersmith and Hb Bucuresti-Louisville.
ISSN:0361-8609
DOI:10.1002/ajh.2830320108