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Since 1956, is know that sickle cell disease is the result of the replacement of glutamic acid with valine in the 6th position of the hemoglobin Hb ?-chain. Sickle cell disease is among the commonest genetic blood disorders characterized by abnormal formation of long polymers due to hydrophobic interactions between the valine in the adjacent HbS molecule. These polymers change red blood cell shape from normal spherical biconcave disc to the characteristic sickle shape, leading to erythrocyte rigidity. This significantly influences their flexibility leading to their early death, prevent normal blood flow and promote vaso-occlusion which may lead to life-threatening complications like stroke, pulmonary hypertension, and acute chest syndrome.
Disorders of globin chain production, since they are common in the UK, they are considered as an important aspect of public health. Antenatal screening of sickle cell disorders (SCD) in particular, is extremely important as this type of hemoglobinopathy is common among specific groups of population in the UK and could be a significant health problem, if left underestimated. Ethnic groups with a clinically significant prevalence of SCD are Africans including African-Caribbeans, African-Americans, Black British and any other African ethnicity, Greeks, Southern Italians, Turks, Arabs, and Indians.
Diagnosis of hemoglobinopathies is important as it could be part of the preliminary diagnosis or could help to explain a hematological abnormality seen in a blood test like decreased hemoglobin level or small size of red blood cells. Also,it is important as it could identify an abnormality in an early phase of neonatal screening or to spot fetuses at risk of having a hemoglobinopathy and offer the parents informed choice. Furthermore, that screening could allow genetic counseling of future parents. An already known family history for an inherited disorder could be a significant help towards the diagnosis and justify completely the need of the screening.
National Screening Committee (NSC) has already put in place a policy regarding antenatal screening in hemoglobinopathies. The main aim of the screening program is to identify people who do not have a diagnosed medical disorder and appear to be in a good health status that could, however, have a silent or carrier condition which could potentially be genetically transmitted to the offspring. In that case, there should be a preventive strategy from the part of the health professionals who are involved into primary and secondary care, which could offer all the necessary information along with the option of early identification of the condition. This could lead to early prevention or even early management.

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