Folic Acid Deficiency in β‐Thalassaemia Heterozygotes

Castaldi, G.; Bagni, B; Trotta, F; Menegale, G; Cavallini, Anna; Piffanelli, A

doi:10.1111/j.1600-0609.1983.tb01456.x

Cited by 11 publications

(2 citation statements)

References 23 publications

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“…Although these studies were small, both found an increased risk of NTDs overall among women with thalassemia compared with women without thalassemia. The mechanism by which HHA can lead to NTDs is unclear, but studies have shown that women with HHA may suffer from depleted folate reserves due to the decrease in healthy red blood cells (Castaldi et al, 1983; Dixit et al, 2016). These low folate reserves may explain our finding of increased risk of anencephaly among women with HHA, since low folic acid has been found to be associated with NTDs in numerous studies (Ibba et al, 2003; Williams et al, 2015).…”

Section: Discussionmentioning

confidence: 99%

Maternal hereditary hemolytic anemia and birth defects in the National Birth Defects Prevention Study

Papadopoulos

Fisher

Howley

et al. 2022

Birth Defects Research

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Objectives Hereditary hemolytic anemia (HHA) results from genetic mutations that cause red blood cell abnormalities. Little research exists on the relationship between HHA and birth defects. Using data from the National Birth Defects Prevention Study (NBDPS), we described characteristics of HHA‐exposed women and estimated associations between HHA during pregnancy and specific birth defects. Methods The NBDPS was a population‐based, case–control study of major birth defects and included pregnancies with estimated delivery dates from October 1997 through December 2011. Participants were ascertained from hospital discharge lists or birth defect registries at 10 sites. Trained interviewers collected information about pregnancy exposures via telephone questionnaire. We described characteristics among HHA‐exposed women and calculated crude odds ratios and exact 95% confidence intervals for defects with ≥3 exposed cases. Results Among 31 HHA‐exposed women (28 cases/3 controls), 13 (42%) reported sickle cell anemia, 17 (55%) reported thalassemia, and one (3%) reported hereditary spherocytosis. The average age at delivery for HHA‐exposed case women was 27.3 years (range: 17–38). The majority (82%) of HHA‐exposed case women reported additional conditions during pregnancy, including hypertension, genitourinary infections, and respiratory illnesses. Additionally, 93% of case women reported using medication during pregnancy. Among the 28 cases, 18 (64%) had isolated birth defects. The defects with ≥3 exposed cases were anencephaly, atrial septal defect, gastroschisis, and cleft palate. Except for anencephaly, the 95% confidence intervals for all estimates were close to or included the null. Conclusion This hypothesis‐generating study adds to the sparse literature on the association between HHA and birth defects.

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Section: Discussionmentioning

confidence: 99%

Maternal hereditary hemolytic anemia and birth defects in the National Birth Defects Prevention Study

Papadopoulos

Fisher

Howley

et al. 2022

Birth Defects Research

View full text Add to dashboard Cite

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“…It is an effect of increased folate utilization caused by the enhanced total, both effective and ineffective erythropoiesis, further contributing to the change in RBC morphology. [11] Thus, the varied morphologies seen in multi-transfused patients are not only attributable to thalassemia, but a wide variety of causes. As explained above, target cells can indicate underlying liver disease and normocytic hypochromic erythrocytes may be because of underlying folate deficiency and/or liver disease.…”

Section: Discussionmentioning

confidence: 99%

Hematologic Evaluation in Transfused B - Thalassemia Major Patients

2016

IJSR

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Background: In β thalassemia major, there is impaired synthesis of β globin chain of hemoglobin moiety leading to severe anemia. As a therapy, patients are given regular blood transfusions. Transfusion associated hemosiderosis is a major complication in these patients. The ineffective hematopoeisis, hemolysis and associated hemosiderosis causes multitude of morphological changes in the peripheral blood cells. We hereby intend to highlight some of the possible causes leading to these changes. Aims & Objectives: To study the complete blood counts, red blood cell indices and peripheral blood smear findings in transfused β thalassemia major patients. Materials & Methods: Venous blood was collected in ethylenediaminetetraacetic acid vacutainers from 50 β thalassemia major patients who had taken more than 12 transfusions. Complete blood count was performed on 5 part automated hematology analyser ADVIA 2120i. Peripheral smears were stained with Leishman's stain and studied under light microscope. Results: Out of the 50 β-thalassemia major patients, 27 were males (54%) and 23 were females (46%). The age group ranged from 2 years to 19 years. The mean hemoglobin level was 8.32g/dl. 44% patients showed microscopic hypochromic red blood cell morphology followed by 30% showing dimorphic blood picture. Schistocytes, target cells, tear drop cells and erythroblasts were also seen. Conclusion: In transfused patients, the morphological changes in peripheral blood can be attributed not only to ineffective erythropoeisis or hemolysis but also transfusion associated hemosiderosis, infections, chronic liver disease, splenomegaly and associated nutritional deficiencies. Thus the peripheral smear and complete blood counts can serve as indicators of underlying co-morbidities.

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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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Folic Acid Deficiency in β‐Thalassaemia Heterozygotes

Cited by 11 publications

References 23 publications

Maternal hereditary hemolytic anemia and birth defects in the National Birth Defects Prevention Study

Maternal hereditary hemolytic anemia and birth defects in the National Birth Defects Prevention Study

Hematologic Evaluation in Transfused B - Thalassemia Major Patients

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

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