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Thalassaemia in pregnancy: Contemporary care for a timeless disease

02 August 2016
10 min read
Volume 24 · Issue 8

Abstract

Globally, thalassaemia is one of the most common genetic blood disorders affecting women's ability to conceive and progress through a normal pregnancy and birth. Thalassaemia is associated with late-onset puberty, infertility due to endocrine dysfunction, growth retardation, jaundice, deformities in skeletal development and enlargement of the abdomen secondary to spleen and liver anomalies. Despite medical innovations, the management of thalassaemia remains associated with significant risk factors for women during pregnancy, birth and the postnatal period. The management of women with thalassaemia is complex, requiring a multidisciplinary approach to care as the potential for maternal and fetal complications presents risks during pregnancy and birth. Women can remain silent carriers of the disease until pregnancy induces symptomatic haematological and coagulation changes, leading to diagnosis of thalassaemia.

Thalassaemia is one of the most common genetic blood disorders affecting women's ability to conceive and progress through a normal pregnancy and birth (Hanprasertpong et al, 2013). Currently, there are approximately 269 million carriers of thalassaemia worldwide; the condition affects approximately 4.4 of every 10 000 live births throughout the world, and a predicted 900 000 births will have clinically significant thalassaemia disorders expected to occur by 2025 (Vichinsky, 2005). Initially thought to be a disease originating from Mediterranean regions, migration of populations throughout Asia and Africa has seen the prevalence of thalassaemia spread to countries previously considered low in rates of diagnosed cases (Piel et al, 2013). Thalassaemia encompasses a group of autosomal-recessive conditions involving the abnormal production of red blood cells and reduced haemoglobin levels (Machin, 2014). The disease presents with various physical symptoms depending on the acuity of the condition, and is divided into three diagnostic groups determined by the level of severity of symptoms and degree of systemic involvement in the condition (Chakrabarti et al, 2014). These groups categorise thalassaemia into minor, major and intermedia conditions, classifying a range from asymptomatic carriers (thalassaemia minor) to infusion-dependent people with reduced prognosis and early morbidity (thalassaemia major). The disease simplified is a mutation in erythropoiesis caused by reduced or absent alpha and beta globin chains that combine to form a red blood cell (Voskaridou et al, 2014). Haemoglobinopathies occur, which cause the onset of thalassaemia traits.

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