McGrath K M, Collecutt M F, Gordon A, Sawers R J, Faragher B S
Pathology. 1984 Apr;16(2):146-50. doi: 10.3109/00313028409059093.
Two families with an unusual type of congenital hemolysis characterized by a normal to high hemoglobin, high reticulocyte count, the presence of target cells or small irregular cells on the peripheral blood smear, and bowl shaped cells in hypotonic wet preparations are described. The underlying abnormality appears to be an increased membrane permeability to both Na+ and K+, with consequent alteration of total cell cation and water content. Seven families previously reported are also reviewed. The entity is currently known as hereditary stomatocytosis with hydrated and dehydrated subtypes, but the diagnosis is frequently overlooked because of the variable morphology of the red cells, often without obvious stomatocytosis.
本文描述了两个家族，其患有一种不寻常类型的先天性溶血，其特征为血红蛋白正常至高值、网织红细胞计数高、外周血涂片上存在靶形细胞或小的不规则细胞，以及在低渗湿片中出现碗状细胞。潜在的异常似乎是细胞膜对Na+和K+的通透性增加，从而导致细胞总阳离子和水分含量的改变。还对先前报道的7个家族进行了综述。该病症目前被称为遗传性口形细胞增多症，有水化和脱水亚型，但由于红细胞形态多变，通常无明显口形细胞增多，诊断常常被忽视。
