An Egyptian beta-thalassaemia heterozygote with normal haemoglobins A2 and F: a problem in population screening.
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Biomedical subjects
Publications and source records attributed to Z Habib.
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Maternal plasma alpha-fetoprotein (AFP) levels in 8 pregnancies, which several weeks later ended as missed abortions, were evaluated. In 7 patients, blood sampling before or after the death of their fetuses revealed almost normal maternal AFP values. The relatively viable placenta of missed abortion probably hampers the eventual leakage/transudation of fetal AFP into maternal circulation.
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Modern neonatal care and advanced plastic surgical correction have led to the survival of most newborns with oral clefts. These children are likely to reproduce. A slight increase in the incidence of oral clefts may be expected in the future. The genetics of cleft lip and cleft palate is reviewed. The inheritance is usually multifactorial. With normal parents the risk of having a first affected child with cleft lip is about one per thousand, the risk of having a second affected child 4 per cent and the risk of having a third affected child 10 per cent. If a parent has already a cleft lip, the risk of having a first affected child now is 4 per cent, while the risk of having a second affected child is 10 per cent. The methodology of genetic counseling is given.
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The modern care of newborn infants with oral clefts renders their survival possible. Since they will eventually reproduce, a slight increase in the incidence may be expected and genetic counseling will be requested on occasion. The cleft lip with or without cleft palate has a different genetic inclination from isolated cleft palate and the risk of recurrence is different. Drugs, such as antiepileptics, salicylates, benzodiazepines and cortisone, have a role in causing oral clefts. When an oral cleft is a part of a syndrome, the genetics of the particular syndrome must be outlined and genetic counseling is given accordingly. Oral clefts alone are usually multifactorial.
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Haemoglobin parameters, serum iron and the levels of haemoglobins A2 and F were examined in normal unrelated adult Egyptians (60 males and 142 females). The mean red cell volume and the mean red cell haemoglobin are low. Haemoglobin A2 in Egyptian adult males is slightly less than that in females.
In 505 random serum samples from unrelated healthy genuine Egyptians, haptoglobin 2-2 phenotypes were most prevalent, though statistically were as common as haptoglobin 2-1 phenotypes. High inbreeding with average inbreeding coefficient of 0.0145 explains the deviation of Egyptian haptoglobin phenotypes from the Hardy-Weinberg equilibrium.