Thalassemia and pregnancy: Results of an antenatal screening program

Alger, Lindsay S.; Golbus, Mitchell S.; Laros, Russell K.

doi:10.1016/0002-9378(79)90648-3

Cited by 23 publications

(10 citation statements)

References 48 publications

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“…In these case the red blood indices of the parents should be investi gated, and in the case of a mean corpuscular volume<80 fl, normal serum iron and normal iron saturation Hb electrophoresis should be done. In a known a-thalassaemia of both par ents prenatal diagnosis with DNA mapping by restriction endonuclease on uncultured amniotic fluid cells should be offered and per formed [1,3,4,12,13],…”

Section: Patient's Datamentioning

confidence: 99%

“…It only produces Hb Bart (y4), which has a too high oxygen affinity and thus releases an inadequate amount of oxygen to the tissue. This results in a high-output heart failure, hydrops fetalis and finally in an intra uterine fetal death between 20 and 40 weeks of gestation or an early neonatal death [1]. Pregnancies with Hb Bart are often associated with severe, sometimes life-threatening pre eclampsia, preterm labour and obstetrical complications due to the large, hydropic fetus and the bulky placenta.…”

Section: Introductionmentioning

confidence: 99%

“…The tetramers are forming in clusive bodies = Heinz bodies, which are picked out by the reticuloendothelial system, causing a moderate to severe haemolytic anaemia. The life expectancy is shortened, for the patients have 5-30% Hb H. In the homo zygous state all 4 alpha genes are deleted and there is no a-chain production [1,5]. The fetus is unable to synthesize Hb F or any adult haemoglobin.…”

Section: Introductionmentioning

confidence: 99%

“…With increasing immigration the most severe form of a-thalassaemia and a it is becoming a worldwide health problem very rare illness. a-Thalassaemia is mainly [1,2].…”

Section: Introductionmentioning

confidence: 99%

“…The a-globin chains are coded on 2 globin gene complexes on the short arm of chromo some 16 and the (3-globin chains on 1 globin gene complex on the short arm of chromo some 11 [1,3].…”

Section: Introductionmentioning

confidence: 99%

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Perinatal Case Report of Unexpected Thalassemia Hb Bart

Hofstaetter¹,

Gonser²,

Goelz

1993

Fetal Diagn Ther

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Homozygous α-thalassaemia Hb Bart is a very rare illness in North America and Western Europe, but is a common cause of NIHF especially in South East Asia. It causes severe hydrops fetalis with lethal outcome and maternal complications as pre-term labour, preeclampsia and retained placenta. A case report of an immigrant from Laos with preterm labour and fetal ascites, but without signs of pre-eclampsia is demonstrated. Fetal heart rate (FHR) trace and biophysical profile were pathological, while umbilical Doppler flow was normal due to hypoxaemia, but with hypervolumina and a high cardiac output. An amniocentesis and puncture of the ascites were performed, but FBS was not successful. Before receiving the results a caesarean section had to be done for deterioration of the FHR trace. A 1,370-g female infant was born who died of cardiovascular failure due to an α-thalassaemia Hb Bart and respiratory distress 5 days post partum. The parents had both an α-0-thalassaemia. α-Thalassaemia is still a very unknown illness in Germany, but with the increasing numbers of immigrants from South East Asia it should be considered at the differential diagnosis of hydrops fetalis. A prenatal diagnosis should be offered to parents with α-0-thalassaemia.

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Section: Patient's Datamentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

“…With increasing immigration the most severe form of a-thalassaemia and a it is becoming a worldwide health problem very rare illness. a-Thalassaemia is mainly [1,2].…”

Section: Introductionmentioning

confidence: 99%

“…The a-globin chains are coded on 2 globin gene complexes on the short arm of chromo some 16 and the (3-globin chains on 1 globin gene complex on the short arm of chromo some 11 [1,3].…”

Section: Introductionmentioning

confidence: 99%

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Perinatal Case Report of Unexpected Thalassemia Hb Bart

Hofstaetter¹,

Gonser²,

Goelz

1993

Fetal Diagn Ther

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Risk of neural tube defects in the offspring of thalassaemia carriers in Hong Kong Chinese

Lam

Tang

1999

Prenat. Diagn.

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The risk of having an offspring with neural tube defect is negatively correlated with early pregnancy maternal folate levels. Thalassaemia carriers often have subnormal folate levels. We postulate that their offspring may be at increased risk of having neural tube defect. We retrospectively reviewed the records of 1961 Chinese women referred to a tertiary centre for prenatal diagnosis between January 1997 and August 1998. Women with a mean corpuscular volume greater than 80 fl were assumed not to be α‐thalassaemia‐1 or β‐thalassaemia heterozygotes. α‐ and β‐thalassaemia heterozygotes were diagnosed by haemoglobin studies. Of the 1961 women studied, pregnancy outcome was not available in 20 and thalassaemia screening was not available in 109 and these were excluded from the final analysis. Two‐hundred‐and‐six women were α‐thalassaemia‐1 heterozygotes, 102 women were β‐thalassaemia heterozygotes and one woman had HbE disease. Three α‐thalassaemia carriers and one β‐thalassaemia carrier had a pregnancy affected by anencephaly (odds=1:76). In the 1523 non‐carriers, five pregnancies were affected by spina bifida (odds=1:304). The odds ratio (95 per cent confidence interval) for neural tube defects in the α‐ and β‐thalassaemia carriers was 3.99 (1.07 to 14.94; p<0.05, Chi‐square test). Because of the small number of affected pregnancies studied, the finding needs to be substantiated by a larger series. If the increased risk is genuine, women need to be screened for thalassaemia before conception and the thalassaemia carriers should be given periconceptional folate supplement to reduce the occurrence of neural tube defects. Copyright © 1999 John Wiley & Sons, Ltd.

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Evaluation of a prenatal screening procedure for β‐thalassaemia carriers in a chinese populationbased on the mean corpuscular volume (MCV)

et al. 1985

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Haemoglobin A2 (HbA2) levels were determined on 25 beta-thalassaemia carriers by the microcolumn method and were found to range from 4.5-7.2 per cent (mean 5.2 +/- 0.82 S.D.). The haemoglobin level (Hb), mean corpuscular volume (MCV), plasma ferritin and HbA2 levels were measured on a further 299 consecutive Chinese pregnant women at a gestation of less than 24 weeks. 18 patients (6 per cent) had HbA2 level greater than 4.5 per cent and were diagnosed to be beta-thalassaemic carriers. It was observed that all these patients had a MCV below 75 fl. If this level is selected in a screening procedure based on measurement of MCV alone all beta-thalassaemia carriers could be detected and 11 per cent of the population screened would require HbA2 estimation. At a lower cut-off level of 70 fl, 8 per cent of the population screened would require HbA2 measurement (a decrease of 27 per cent) but the detection rate will be lowered considerably (83 per cent). The high false positive rate at all cut-off levels of MCV was largely due to the prevalence of iron deficiency anaemia in the population. Estimation of plasma ferritin level in patients with low MCV will reduce this false positive rate, but there will be a considerable delay in diagnosis in patients with concomitant iron deficiency and beta-thalassaemia. The presence of iron deficiency in beta-thalassaemia carriers did not reduce their HbA2 level below the diagnostic range in this study.(ABSTRACT TRUNCATED AT 250 WORDS)

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Thalassemia and pregnancy: Results of an antenatal screening program

Cited by 23 publications

References 48 publications

Perinatal Case Report of Unexpected Thalassemia Hb Bart

Perinatal Case Report of Unexpected Thalassemia Hb Bart

Risk of neural tube defects in the offspring of thalassaemia carriers in Hong Kong Chinese

Evaluation of a prenatal screening procedure for β‐thalassaemia carriers in a chinese populationbased on the mean corpuscular volume (MCV)

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