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Hemoglobin H Disease

Robert T. S. Jim
AMA Arch Intern Med. 1958;102(3):400-404. doi:10.1001/archinte.1958.00030010400008.
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Hemoglobin H disease, one of the more recently recognized hemoglobinopathies, is characterized by the presence of hepatosplenomegaly, microcytic hypochromic anemia, intraerythrocytic inclusion bodies, and two hemoglobin components found on electrophoresis—normal hemoglobin and an abnormal component migrating faster than normal hemoglobin. Hemoglobin H disease has been observed in 3 members of a Chinese family,1 3 other Chinese,2 28 Siamese,3 2 unrelated Filipinos,4 a Greek family,5 a Cypriot,6 a Malayan,7 an Arab from Jordan,7 5 Chinese-Indonesians,8 and a Nepalese Gurkha woman.2 In this report are presented the clinical, hematological, and family studies of another person of Chinese extraction with hemoglobin H disease.

Report of Case  The propositus* (No. 1) is a 42-year-old Chinese man, fire-control mechanic, with a history of mild to moderate recurrent nonradiating epigastric pain, postprandial bloating, nagging low backache, small stature, and peculiar skin color since childhood. In 1952 the epigastric pain was especially severe, causing him to faint.

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