Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0039730 (thalassemia)
 10,305 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The mean serum and adjusted red cell folate levels, as measured by microassay using Lactobacillus casei, respectively were 8.87 +/- SD 3.28 microgram/l and 436 +/- SD 107 microgram/l in 76 normal subjects, 4.22 +/- SD 2.70 microgram/l and 182 +/- SD 114 microgram/l in 55 patients with beta-thalassaemia/Hb E disease and 6.36 +/- SD 2.95 microgram/l and 320 +/- 158 microgram/l in 37 patients with Hb H disease. The mean serum and adjusted red cell folate values of the patients with beta-thalassaemia/Hb E disease and the mean serum folate value of the patients with Hb H disease were significantly lower than those of the normal subjects (P less than 0.001). 33% of the beta-thalassaemia/Hb E patients and 8% of the Hb H patients showed low serum folate levels (less than 3 microgram/l) whereas 84% of the former and 45% of the latter showed low adjusted red cell folate levels (less than 270 microgram/l). The group of beta-thalassaemia/Hb E disease with low serum folate levels had lower mean haemoglobin concentration and lower mean adjusted red cell folate level than the group with normal serum folate levels. Since the Thai diets have high folate content, the observed low serum and erythrocyte folate levels in thalassaemic patients most likely occur from massively increased erythropoiesis. Folate, 5 mg/d, is now routinely prescribed to such patients especially to those with severe anaemia.
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PMID:Serum erythrocyte folate levels in thalassaemic patients in Thailand. 45 55

S-Homozygotes, SC heterozygotes, and S-beta-thalassaemia heterozygotes are the haemoglobinopathies which make up sickle cell disease. Although their clinical features are similar, as regards complications during pregnancy, Hb S-beta-thalassaemia most dangerous, the main causes of mortality being severe anemia, acute sequestration crisis, bacterial infections, painful episodes, and pulmonary bone marrow fat embolism. Folic acid and antimalarials (where these are indicated) are often successful in preventing severe anaemia. It is best to reserve blood transfusion to replace moderate loss or to correct gross anaemia quickly when this is considered severe enough to threaten life. Painful crises are particularly common towards the end of pregnancy and in treating these episodes, analgesics, antibiotics, and sometimes heparin are used. S-homozygote carries additional hazards. Because of the prevalence of pelvic contraction, fetopelvic disproportion is common and so the incidence of operative deliveries is high. Many fetuses are lost through an increased incidence of abortion and perinatal mortality. In the survivors, there is evidence of intrauterine growth retardation brought about by continuous maternal anaemia throughout pregnancy.
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PMID:Sickle cell disease in pregnancy. 126 39

The effect of folate supplement on the haemoglobin concentration and outcome of pregnancy was studied in a group of Chinese women with uncomplicated beta-thalassaemia minor who delivered in our hospital between 1984-1987. The patients who received 5 mg folate daily showed a significant increase in the predelivery haemoglobin concentration, which was significantly higher than that in patients who received 0.25 mg daily. When the effect of parity was analysed we found that: multiparas were significantly older, had lower haemoglobin before delivery, and more of them required transfusion. Folate 5 mg daily significantly increased the predelivery haemoglobin concentration in both nulliparas and multiparas. It is concluded that folate 5 mg daily improves the haemoglobin concentration in pregnant women with beta-thalassaemia minor and that this should be prescribed.
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PMID:Effect of folate supplement on pregnant women with beta-thalassaemia minor. 259 50

A study was performed in 100 subjects to determine the prevalence and cause of anaemia in pregnant Indian women in the Johannesburg area. The geometric mean serum ferritin concentration in all three trimesters of pregnancy was below 12 micrograms/l, with 43.3% of women in the first, 48.6% in the second and 80.0% in the third trimester having concentrations below this value. Estimation of body iron stores revealed a mean deficit of 265 mg iron in subjects in the third trimester, 20% of whom had iron deficiency anaemia. No difference in iron status was demonstrable in subjects from different religious backgrounds. Folate and vitamin B12 nutrition was adequate. Three subjects were diagnosed as being beta-thalassaemia heterozygotes. The findings underline the need for routine iron supplementation of pregnant Indian women in the Johannesburg area.
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PMID:Anaemia in pregnant Indian women in Johannesburg. 326 57

Genetics is an important area of focus for the preconception visit (Table 4). Folic acid should be recommended for all women. The genetic and pregnancy history should be evaluated for clues to a genetic disorder. Preconception screening and counseling are available for many diseases that are indicated in the family history. Screening may be offered for sickle cell anemia, thalassemia, Tay Sachs disease, and cystic fibrosis in the appropriate population groups. Older couples should be counseled about their increased risks for having complications during pregnancy and for having children with genetic disorders.
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PMID:Genetics issues in preconception health care. 1241 84