Hereditary Elliptocytosis Associated with Beta-Thalassaemia and a Variant of Rh (D)

Abstract

A Sinhalese family with hereditary elliptocytosis is been described. Three of the members had thalassaemia trait and 2 had CD^ue chromosome. There was no abnormality due to the elliptocytosis nor to the presence of the thalassaemia trait. Both genes had not interacted. The osmotic fragility was markedly decreased in 2 members before and after incubation.Two members did not show any haptoglobin bands.

Hereditary Elliptocytosis Associated with Pernicious Anaemia

“…There seems to be no evidence to suggest mutual enhancement of the involved genes for hereditary elliptocytosis and per nicious anaemia in this present case. It is worth mentioning that the pre sent observation confirms the similar findings by others in cases present ing with hereditary elliptocytosis associated with /?-thalassaemia [1,8], Hb S [11] and H bC [2],…”

“…It is a genetic morphological anomaly of red cells and has been described in association with other genetic disorders, including HbS [7,11]; /J-thalassaemia [1,3,5,8,10], HbC [2], hereditary telan giectasia [9] and acquired autoimmune haemolytic anaemia [6], The pre sent patient is a first reported case with combined hereditary elliptocyto sis and pernicious anaemia.…”

Enhanced haemolysis with β‐thalassaemia trait due to the unstable β chain variant, Hb Gunma, accompanied by hereditary elliptocytosis due to protein 4·1 deficiency in a Japanese family

“…The combination of β‐thalassaemia with HE has occasionally been reported (Aksoy, 1963; Angelopoulos & Caralis, 1965; Perillie & Chernoff, 1965; Aksoy & Sakir, 1968; Nagaratnam et al , 1971; Van Ros et al , 1976; Streichman et al , 1990) and the pathological relationship between these two disorders remains unclear.…”