1/16. Congenital sideroblastic anaemia with intrauterine symptoms and early lethal outcome.Sideroblastic anaemia is a rare disease, which most often presents in early childhood. A case of ringed sideroblastic anaemia with onset in early foetal life in a female infant, resulting in severe intrauterine symptoms, is reported. Six weeks after birth a bone marrow examination revealed a large amount of typical ringed sideroblasts, thus establishing the diagnosis. In spite of repeated blood transfusions, the haemoglobin content gradually decreased. The condition was refractory to pyridoxal phosphate treatment and continued to deteriorate with lethal outcome four months after birth.- - - - - - - - - - ranking = 1keywords = anaemia (Clic here for more details about this article) |
2/16. Prenatal vitamin B12 therapy of a fetus with methylcobalamin deficiency (cobalamin E disease).A child presented early in life with homocystinuria and megaloblastic anaemia which responded to hydroxocobalamin (OH-B12) therapy. Mental development has been subnormal since birth. fibroblasts from this patient contained low levels of methylcobalamin (CH3-B12) and incorporated less 14C from labelled 5-methyltetrahydrofolate (14CH3H4PteGlu) into methionine. methionine synthase activity was more thiol-dependent in the patient's fibroblasts than it was in normal cells. Studies on fibroblasts from the parents confirmed that both are heterozygous for this disorder. When the mother became pregnant again, prenatal diagnosis was attempted by use of cultured amniocytes obtained at 16 weeks' gestation. Values for incorporation of 14CH3H4PteGlu into methionine by intact cells and the thiol requirement of methionine synthase were abnormal in these amniocytes but these features did not conclusively identify the fetus at risk as being homozygous for the abnormality. Only 8% of the 57Co vitamin B12 incorporated by the fetal amniocytes was present as CH3-B12 compared with 29% and 40% in two control amniocyte lines and 37% and 32% in fibroblasts from the parents who are obligate heterozygotes. These studies suggested that the fetus had CH3-B12 deficiency. The mother was treated with OH-B12 (1 mg twice weekly, intramuscularly) from 25 weeks' gestation. The baby was clinically normal at birth without any evidence of homocystinuria or anaemia, and has been maintained on OH-B12 (1 mg twice weekly). Studies on fibroblasts from the baby confirmed the diagnosis of CH3-B12 deficiency (cobalamin E disease). At 6 months of age, growth and development remain normal.- - - - - - - - - - ranking = 0.33333333333333keywords = anaemia (Clic here for more details about this article) |
3/16. First trimester studies of a fetus at risk for triose phosphate isomerase deficiency.A first trimester prenatal diagnosis was offered to a mother whose child had died of haemolytic anaemia and multisystem disease caused by TPI deficiency. The deficiency state was characterized by greatly reduced TPI activity in both erythrocytes and peripheral lymphocytes. Specific activity of TPI in trophoblast homogenates from the index fetus was about 30 per cent less than in the controls, but the heat stability test showed overlap. These data were confirmed in uncultured and cultured amniotic cells, where glycolytic intermediate concentrations DHAP, GAP and FDP fell in the range of controls. These results suggested that the fetus was a TPI heterozygote. This prenatal prediction was confirmed by RBC and haematological studies at birth.- - - - - - - - - - ranking = 0.16666666666667keywords = anaemia (Clic here for more details about this article) |
4/16. Sinusoidal antenatal fetal heart rate patterns.The sinusoidal fetal heart rate pattern is significantly associated with severe fetal anaemia when seen in the antenatal period. Strict adherence to definition is important, as pseudosinusoidal patterns do not have the same grave prognostic significance. If this fetal heart rate pattern is seen antenatally it is our contention that the baby should be delivered urgently by Caesarean section, unless the fetal anaemia can be treated in utero.- - - - - - - - - - ranking = 0.33333333333333keywords = anaemia (Clic here for more details about this article) |
5/16. Congenital haemolytic anaemia resulting from glucose phosphate isomerase deficiency: genetics, clinical picture, and prenatal diagnosis.glucose phosphate isomerase (GPI) deficiency with severe haemolysis and hydrops fetalis was found in the first child of unrelated, healthy Caucasian parents. The child died at 3 hours. Both parents were found to have 50% of normal red cell GPI activity and qualitative tests on their red cells and white cells showed that each was heterozygous for a different GPI variant allele associated with enzyme deficiency. Tests on the placenta showed that the propositus was a 'compound' heterozygote. Examination of amniotic cells obtained by amniocentesis on the mother at 28 weeks in her second pregnancy led to the prenatal diagnosis of GPI deficiency. This second child, a 'compound' heterozygote at the GPI locus indistinguishable from the first, was successfully treated by immediate exchange transfusion and subsequent blood transfusions.- - - - - - - - - - ranking = 0.66666666666667keywords = anaemia (Clic here for more details about this article) |
6/16. Feto-maternal haemorrhage as a cause of fetal morbidity and mortality.Massive feto-maternal haemorrhage is a cause of significant fetal morbidity and mortality, but is often overlooked because screening for fetal erythrocytes in the maternal circulation has not been a routine procedure in stillbirths, fetal distress or neonatal anaemia; there are few recognized clinical symptoms or signs, or histopathological features. This report covers three cases. A screening blood test in the last month of pregnancy could be of value in detecting feto-maternal haemorrhage before irreversible damage to the fetus occurs.- - - - - - - - - - ranking = 0.16666666666667keywords = anaemia (Clic here for more details about this article) |
7/16. Sinusoidal fetal heart rate pattern with severe fetal anaemia. Case report.A sinusoidal fetal heart rate pattern, associated with Kell incompatibility, severe fetal anaemia, maternal hypertension and intrauterine fetal growth retardation, is described. The mechanism and management are discussed.- - - - - - - - - - ranking = 0.83333333333333keywords = anaemia (Clic here for more details about this article) |
8/16. Diffuse neonatal haemangiomatosis with intra-uterine haemorrhage and hydrops fetalis: a case report.A case of diffuse neonatal haemangiomatosis involving the skin, liver, lungs, adrenals, gums, diaphragm, skull, and testes is reported. Intra-uterine onset of bleeding led to bloody amniotic fluid, severe anaemia, congestive heart failure, and hydrops fetalis. Intractable coagulopathy and renal failure resulted in persistent bleeding, anuria, metabolic acidosis, and hyperkalaemia, leading to a fatal outcome.- - - - - - - - - - ranking = 0.16666666666667keywords = anaemia (Clic here for more details about this article) |
9/16. Congenital anaemia after transplacental B19 parvovirus infection.We report three children with congenital anaemia after intrauterine infection with B19 parvovirus. All the fetuses developed hydrops fetalis that was treated by blood transfusion. After delivery the infants had hypogammaglobulinaemia. In all three, sera lacked B19 but viral dna was found in bone marrow. All were treated with immunoglobulin. One child died and B19 was found in various tissues. In the other two cases, virus could no longer be detected after therapy but the patients remain persistently anaemic. Persistent B19 infection should be suspected in infants with congenital red-cell aplasia.- - - - - - - - - - ranking = 0.83333333333333keywords = anaemia (Clic here for more details about this article) |
10/16. Pseudosinusoidal fetal heart rate pattern and fetal anaemia: case report and review.The association of a pseudosinusoidal fetal heart rate pattern with fetal anaemia is reported. A system of classifying this cardiotocographic feature as minor, intermediate or major is discussed. The clinical correlates of each of these gradings and the differentiation from a true sinusoidal fetal heart rate pattern are presented.- - - - - - - - - - ranking = 0.83333333333333keywords = anaemia (Clic here for more details about this article) |
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