Krishnan K, Martinez F, Wille R T, Jones R T, Shih D T, Head C, Fairbanks V F, Dabich L
Division of Hematology-Oncology, University of Michigan Medical School, Ann Arbor 48109.
Hemoglobin. 1994 Sep;18(4-5):285-95. doi: 10.3109/03630269408996194.
Hb Washtenaw [beta 11(A8)Val-->Phe] is a new, low oxygen affinity variant with a previously undescribed substitution, identified in seven members over three generations of a Hungarian-American family. The hemoglobin is mildly unstable and the family members studied are clinically asymptomatic but mildly cyanotic, and some exhibit mild anemia. The index case had severe pulmonary hypertension and some of the family members had increased pulmonary vascular resistance on echocardiography. An association between the inheritance of this abnormal hemoglobin and the pathogenesis of primary pulmonary hypertension is suggested but the mechanism is unclear.
沃什特瑙血红蛋白[β11(A8)缬氨酸→苯丙氨酸]是一种新的低氧亲和力变体，具有此前未描述的替换，在一个匈牙利裔美国家庭的三代人中的七名成员身上被发现。该血红蛋白轻度不稳定，接受研究的家庭成员临床无症状，但有轻度发绀，部分人表现出轻度贫血。索引病例患有严重的肺动脉高压，一些家庭成员经超声心动图检查显示肺血管阻力增加。提示这种异常血红蛋白的遗传与原发性肺动脉高压的发病机制之间存在关联，但机制尚不清楚。
