A Japanese boy with hemolytic anemia due to an unstable hemoglobin (Hb Bristol)
Sakuragawa, M.; Ohba, Y.; Miyaji, T.; Yamamoto, K.; Miwa, S.
Nihon Ketsueki Gakkai Zasshi Journal of Japan Haematological Society 47(4): 896-902
1984
ISSN/ISBN: 0001-5806 PMID: 6507019 Document Number: 223987
A patient with congenital hemolytic anemia was observed from his infancy to 6 yr of age. The diagnosis of unstable Hb hemolytic disease was established at the age of 1 yr and 11 mo. Precipitation of the unstable Hb by the isopropanol method, tryptic fingerprinting of the .beta.-chain and analysis of the abnormal .beta.Tp9 identified the unstable Hb as Hb Bristol of .beta.67Val .fwdarw. Asp. Although regular blood transfusion is required to maintain the Hb level of 5-10 g/dl, the patient is developing normally, and is enjoying normal activities.