一名孟买血型个体，缺乏H和Le抗原，但α-2-岩藻糖基转移酶和α-4-岩藻糖基转移酶水平正常。
A Bombay individual lacking H and Le antigens but expressing normal levels of alpha-2- and alpha-4-fucosyltransferases.
作者信息
Shechter Y, Etzioni A, Levene C, Greenwell P
机构信息
Blood Bank, Rambam Medical Center, Haifa, Israel.
出版信息
Transfusion. 1995 Sep;35(9):773-6. doi: 10.1046/j.1537-2995.1995.35996029164.x.
BACKGROUND
The rare Bombay phenotype is usually due to a primary genetic defect in an alpha-2- or alpha-4-fucosyltransferase. The present study was done to investigate a patient with normal transferases, who exhibits the Bombay phenotype.
CASE REPORT
Red cells of the patient, his parents, and siblings were phenotyped for A, B, and H antigens. The presence of B, H, and Le transferases in serum and saliva was measured.
RESULTS
The parents and siblings were all group B, Le(a-b-). The propositus was typed as Oh, Le(a-b-). His serum contained anti-A, anti-B, and anti-H. Normal levels of B, H, and Le transferases were found in all family members including the patient.
CONCLUSION
In an unusual case, a person has the Bombay phenotype, but normal levels of transferases in serum and saliva. A general defect in fucose metabolism seems to be the primary abnormality in this case.
背景
罕见的孟买血型通常是由于α-2-或α-4-岩藻糖基转移酶的原发性基因缺陷所致。本研究旨在调查一名具有正常转移酶但表现出孟买血型的患者。
病例报告
对患者及其父母和兄弟姐妹的红细胞进行A、B和H抗原表型分析。检测血清和唾液中B、H和Le转移酶的存在情况。
结果
父母和兄弟姐妹均为B型，Le(a-b-)。先证者血型为Oh，Le(a-b-)。其血清中含有抗A、抗B和抗H。包括患者在内的所有家庭成员血清和唾液中的B、H和Le转移酶水平均正常。
结论
在一个不寻常的病例中，一个人具有孟买血型，但血清和唾液中的转移酶水平正常。岩藻糖代谢的普遍缺陷似乎是该病例的主要异常情况。
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