Inheritance of Haemoglobin H Disease

Abstract

A study of 23 patients with Hb H disease and their 82 relatives in 17 families showed that 2 types of this condition exist. One is associated with the presence of a small slow-moving component, which we tentatively called the X component and which was invariably present in one parent. Some siblings also had it. The other type was not associated with this component. Two patients without X component had a newborn with Bart’s haemoglobin without X component. None of the parents of 20 newborns with Hb Bart’s without the X component had the X component. It was present in only one parent of each of 2 newborns with Hb Bart’s and the X component. They are thought to represent Hb H disease in the newborn period. We suggest that at least 3 abnormal genes may lead to Hb H disease, which results when 2 of the 3 combine. Severity of clinical and haematological symptoms depends upon which abnormal gene is present and which 2 are involved in any particular combination.

Abnormal Hemoglobins, Glucose-6-Phosphate Dehydrogenase Deficiency and Hereditary Ovalocytosis in the Dayaks of Sarawak

“…The gene for Hb Co Sp, which leads to Hb H disease when combined with the gene for a-thalassemia [Lie-Injo et al, 1971], has already been shown to exist in appreciable frequencies in Malays (2.24%), Chinese (0.66%) and Indians (0.16%) in West Malaysia [Lie-Injo and D uraisamy, 1972], and in the Temuan (3.2%) and Jakun (2.6%) groups of Malayan aborigines but not in the Semai and Temiar groups [Lie-Injo et a!., 1973]. The results of the present survey show that the gene for Hb Co Sp also occurs in East Malaysia among the Dayaks of Sarawak but at low frequencies.…”

“…Hb Co Sp was found by Fessas et at. [1972] to be identical to Hb Athens [Sofraniadou ct at., 1968], Hb Tliay [Wasi et at., 1969] and slow-moving Hb X compo nents [Lie-Injo, 1970;Lie-Injo et al, 1971].…”

“…Surveys for abnormal hemoglobins were carried out a number of years ago in Sarawak [Colbourne et al, 1958;Vella and Tavaria, 1961] using paper electrophoresis, which does not detect certain types of abnormal hemoglobin present in small amounts. One example of such a hemoglobin is Hb Co Sp [Milner et al, 1971], described earlier in Malaysia as slow-moving Hb X [Lie-Injo, 1970; Lie-Injo et al, 1971]. The frequency of glucose-6-phosphate dehydrogenase (G6PD) de ficiency in Sarawak has been reported , but the number of persons examined among the Dayaks was quite small.…”

Interaction of Haemoglobin E with α-Thalassaemia and Haemoglobin Constant Spring

“…Ac cording to current concepts on the genetic pattern of the a-thalassaemia syndromes, Hb H disease is due to a patient inheriting three a-thalassae mia genes, two of which are inherited from one parent, who has a severe a-thalassaemia trait, and one inherited from the other parent, who has a mild a-thalassaemia trait. Studies carried out at this Institute by L ie-I njo et al [7] showed that two types of Hb H disease exist: one type asso ciated with the presence of Hb Constant Spring (Hb CoSp), at that time designated Hb X, which is invariably present in one parent and the oth er type not associated with the presence of Hb CoSp. The clinical and haematological features of patients with and without Hb CoSp have…”

Haemoglobin Bart’s and Slow-Moving Haemoglobin X Components in Newborns

“…The present study of newborns also showed that Hb Bart's can accompany dif ferent abnormalities of haemoglobin production, involving a-chains, ^-chains as well as y-chains. Its presence in cord blood is, therefore, not specific for a-thalassaemia.A recent study by L ie -I n jo et al [6] revealed that haemoglobin H dis ease in Malaysia takes 2 forms, one accompanied by slow-moving compo nents, tentatively designated X, and another without. In those with X…”