Haemoglobinopathies in pregnancy

Abstract

The haemoglobinopathies are a complex group of red blood cell disorders. The ethnic diversity of the population in many parts of the UK means that these disorders are increasingly being seen in the antenatal setting. With the planned introduction of both antenatal and newborn screening programmes for haemoglobinopathies in England and Wales, a review of the subject is timely. This article explains the genetic background and clinical features of the major haemoglobinopathies, discusses antenatal screening and prenatal diagnosis, and highlights the implications of pregnancy for women with these disorders.

Study to identify the role of high performance liquid chromatography in detecting haemoglobinopathies in antenatal patients

“…Present evidence and experience suggest that HPLC have acceptable sensitivity and specificity when properly used. 1 12 Screening for hemoglobinopathy was done in which 55% partners were tested. 77 partners at risk were identified out of 810.…”

“…Haemoglobinopathies are a complex group of red cell disorders, 1 which constitute a major burden of genetic diseases 2 and one of the major public health problems in India. 1 Haemoglobinopathies have a highly variable clinical manifestations.…”

“…Haemoglobinopathies are a complex group of red cell disorders, 1 which constitute a major burden of genetic diseases 2 and one of the major public health problems in India. 1 Haemoglobinopathies have a highly variable clinical manifestations. 3 At one end of the spectrum there is incompatibility with life and at the other, the patient under a stress, such as pregnancy, may experience some deterioration in her normal healthy state.…”

“…3 The haemoglobinopathies are autosomal recessive inherited disorders of haemoglobin synthesis (thalassaemia) or structure (sickle cell disorder) that are responsible for significant morbidity and mortality on a worldwide scale. 1 Individuals with trait (carriers) are healthy and unaware of their carrier status unless specifically screened. If a couple both carry a clinically significant haemoglobinopathy trait there is a 1 in 4 chance with each pregnancy that their child will inherit a major haemoglobinopathy.…”

Applications of Cell-Free Fetal DNA in Maternal Serum

“…73 β-Thalassemia is a recessive blood disorder, caused by mutations in the globins' genes on chromosome 11 resulting in modifications to either the structure or production of hemoglobin, leading to chronic anemia. 74 A noninvasive experiment has also been advanced for β-thalassemia major. The assessment is based on a PCR assay designed to detect a paternally inherited CTTT deletion within the gene, which is the most conventional mutational cause of β-thalassemia.…”