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.
Key Words: a-Thalassaemia; Haemoglobin Bart’s; Haemoglobin H disease; Haemoglobinopathies
Ninety-six cases of severe malnutrition and associated nutritional disorders were encountered in children in the department of paediatrics for the year 1971. The predominant age group was in children under the age of two years. Malay and Indian children were affected more than the Chinese children with malnutrition. Protein caloric malnutrition had already affected the growth pattern of these children as the majority were below the 50th percentile in height and weight comparing them with Hong Kong childrens’ height and weight standards. Seventy-five per cent of the children presented with infection. Fifty-four per cent of the families with malnutrition had three to six children and in two thirds of the families the income was from $100/- to $249/- per month. Forty per cent of the children lived in the kampong type of houses with no proper sanitation. Worm infestation was common in this group. The mean haemoglobin, serum iron levels, and serum folic acid levels were lower in the Indians and Malays. Protein caloric malnutrition must be treated early because of its irreversible effects on brain and bone growth. It is recommended that some form of allowance either in the form of food or money be given to these children from poor social-economic background.
Non-haemoglobin liver iron was estimated in 275 presumably normal individuals from Kuala Lumpur and Singapore at necropsy. Liver Iron concentrations were highest during the first two years after birth but declined sharply during childhood. They then rose gradually and reached a value of 20 mg/100gm in adult males. Liver iron concentrations of childbearing women remained low and it was only after menopause that values in women rose to those of males. Liver iron stores increased with age to a plateau of about 300 mg in adults, suggesting that this value may represent the adult size for liver iron store. Among the three major ethnic groups in Malaysia and Singapore, Chinese, being in a better socio-eonomic class, had larger liver iron stores. The median liver iron concentrations of Malaysians and Singaporeans, on the whole, were lower than those reported from western populations and as many as 35 per cent of the women were in a subclinical state of iron deficiency.
The increase in menstrual blood loss associated with copper-bearing IUDs may cause or aggravate pre-existing anaemia. In order to evaluate this risk, 84 Malaysian women wearing copper-IUDs were studied longitudinally by means of serial measurements of blood haemoglobin concentration (Hb), serum iron (S/Fe) and transferrin saturation (T/S). The initial Hb was under 12 gm% in 33.7% of patients. The mean Hb showed no significant change up to 12 months while S/Fe fell significantly at the end of this time; the T/S was significantly reduced as early as 6 months post-insertion. There is a significant risk of anaemia following copper-IUD insertion, particularly with long-term usage. Progestogen-releasing IUDs may offer the most feasible solution to this problem in our local context since oral medication with iron or drugs to reduce menstrual blood loss is not practicable.
Serum ferritin concentration has been measured in pregnant women at their first antenatal visit. Results were analysed according to trimesters. With progression of the pregnancy there is a fall in serum ferritin concentrations. Haemoglobin and red cell indices cannot be used to predict iron status supplemental iron therapy raised the serum ferritin levels.
The present findings suggest the possible involvement of an active mechanism for transport of iron to the fetus. In all the 19 subjects studied, the cord serum iron levels tended to be higher (129.2 ± 56.8 ug/100ml) than the maternal serum iron levels (74.0 ± 35.9 ug/100ml) at parturition even in maternal iron deficiency. The significant difference (P< 0.001) between cord serum iron levels and the maternal iron levels shows that an active transport mechanism working against a gradient in favour of the fetus exists. The availability of iron to the fetus appears to be dependent on maternal serum iron levels but not on maternal iron stores. This finding serves to stress the importance of iron supplements in pregnancy. A hypothetical model for iron transfer from maternal circulation to fetal circulation is described.
The study presents recent data on the prevalence and pattern of nutritional anemia in the Maternity Hospital, Kuala Lumpur. A total of 309 pregnant women in their third trimester, of Malay, Chinese and Indian origin from the lower socio-economic strata were randomly selected for the study. Hematological indices (including Hb, PCV, MCHC, and TRBC), serum iron, transferrin saturation and ferritin, serum folate as well as protein and albumin were determined. Based on Hb and PCV values, 30-40 percent of the women could be considered anemic; approximately 50 percent of them presented with unsatisfactory serum iron, transferrin saturation and ferritin values; 60.9 percent had low serum folate levels; and about 30 percent may be considered to be of poor protein nutriture. Anemia in the study population was seen to be related mostly to iron and to a lesser extent, folate deficiency. Hematological, iron, folate and protein status was observed to be the poorest amongst the Indian women, better in the Malay group and generally the best amongst the Chinese women. Birth records of 169 of these women revealed that all of them had live births. Nearly all the infants were delivered by normal vaginal delivery (NVD) The mean gestational age was 38.6 weeks. One of the infants had a birth weight of <2.0 kg; incidence of low birth weight, <2.5 kg, was 8.3 percent. Although there was a trend of deteriorating hematological, iron and protein status of women from the 0, 1 -3 and >=4 parity groups, these differences were not statlstlcally significant.