遺伝性溶血性貧血を伴う赤血球ピルビン酸キナーゼ異常症の13例

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タイトル別名
  • Thirteen Cases of Erythrocyte Pyruvate Kinase Deficiency Associated with Hereditary Hemolytic Anemia
  • 遺伝性溶血性貧血を伴う赤血球ピルビン酸キナーゼ異常症の13例--臨床的並びに生化学的検討
  • イデンセイ ヨウケツセイ ヒンケツ オ トモナウ セッケッキュウ ピルビンサン
  • —臨床的並びに生化学的検討—
  • —Clinical and Biochemical Studies—

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抄録

Thirteen cases of hereditary deficiency of erythrocyte pyruvate kinase (PK) associated with hemolytic anemia, who were considered to be heterozygous for two different alleles, were studied clinically and biochemically. Characterizations of these abnormal PKs were performed according to the methods recommended by the International Committee for Standardization in Haematology (ICSH). Following ICSH recommendation, each patient was named PK “Kagoshima”, PK “Kyoto”, PK “Takamatsu”, PK “Abeno”, PK “Kobe”, PK “Marugame”, PK “Hoenzaka”, PK “Osaka”, PK “Motomachi”, PK “Gifu”, PK “Hiroshima, PK “Matsumoto”, and PK “Tama”.<br>The characteristics of mutant PK enzymes suggest that the causes of chronic hemolysis depend mainly on decreased affinity for phosphoenolpyruvate, thermolability, increased inhibition by adenosine triphosphate and low activation by fructose-1, 6-diphosphate.

収録刊行物

  • 臨床血液

    臨床血液 22 (3), 306-316, 1981

    一般社団法人 日本血液学会

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