Guidelines for screening, diagnosis and management of hemoglobinopathies

Abstract

The β-thalassemias and sickle cell disorders are a major health burden in India. Diagnosis and management of these disorders both in adults and in newborns using appropriate approaches and uniform technology are important in different regions of a vast and diverse country as India. In view of a National Thalassemia Control Program to be launched soon, a need was felt for guidelines on whom to screen, cost-effective technologies that are to be used as well as for establishing prenatal diagnosis programs in regional centers. Newborn screening for sickle cell disorders is in its infancy in India and uniform approaches need to be followed. Also, included are guidelines for monitoring and managing patients who are now growing older and need comprehensive care as well as management of complications of the disease.

Keywords: Diagnosis; guidelines; hemoglobinopathies; management; sickle cell disease; thalassemia.

Figure 1

Synthesis of globin chains during development

Figure 2

Globin gene clusters

Figure 3

The structure of a prototypical globin gene

Figure 4

IAP Growth curve for boys (2 to 18 yrs)

Figure 5

IAP growth curve for girls (2 to 17 yrs)