Abstract :
Introduction: The hemoglobinopathies are the most common single-gene defect in man. The thalassemia syndromes are a heterogeneous group of hereditary disorder due to decreased synthesis of either ? or β globin chain of Hb A. There are 3 phases of growth disturbances and have three different etiologies. First phase: growth disturbances is mainly due to hypoxia, anaemia, ineffective erythropoiesis and nutritional factors; the Second phase: During late childhood, growth retardation is mainly due to iron overload affecting the GH-IGF-1 axis and other endocrinal complications. Third phase: after the age of 10-11 years, delayed or arrested puberty is an important contributory factor to growth failure in adolescents thalassemic who does not show any growth spurt.
Materials and Methods: Cross-sectional, observational, single-centre, tertiary hospital-based study. Children of thalassemia major of 2-12 years with multiple transfusions was taken over 1 year. Study population was divided into 2 groups: Group1-irregularly transfused; Group 2-regularly transfused. Clinical settings, anthropometry, laboratory tests like serum ferritin, pre-transfusion haemoglobin, total leucocyte count etc. were taken into consideration. Thalassemia children with other comorbidities like tuberculosis, chronic kidney disease, chronic heart diseases etc. were excluded from the study.
Results: Among the 200 children, 143 (71.5%) were taking regular (2-4 weekly) transfusion therapy and 57 (28.5%) were taking irregular transfusion (>4weekly). Mean age of diagnosis was 18.66 ± 7.443months in Group 1 (Irregularly transfused) and 18.93 ± 7.218 months in Group 2 (Regularly transfused). Among the regularly transfused thalassemic 17.7% children had W/A < 3>10years of age, 86.7% have not attained puberty yet. Among the regularly transfused thalassemic children 96.7% have not attained puberty yet. US and LS individually affected resulting in stunting but it was proportionate innature so US: LS ratio was according to age. A positive correlation between pre-transfusion haemoglobin and W/A and H/A suggested that with decreasing pre-transfusion haemoglobin concentration more child had growth retardation. Mean value of serum Ferritin was 941 ± 608.490 ng/ml in Group 1(Irregularly transfused) and Mean value of serum Ferritin was 1403 ± 685.584ng/ml in Group 2(Regularly transfused). MUAC in the present study was 12.44cm suggesting mild-moderate malnutrition.
Conclusion: Extremely variable clinical and haematological findings were observed in these patients. Growth retardation has found in both regularly and irregularly transfused patients. These findings are almost comparable to other Indian studies. Appropriate knowledge regarding prenatal counselling, early diagnosis, regular transfusions and overall treatment can help better management of this group of patients.
Keyword :
Thalassemia, Growth retardation, Transfusions, Regular transfusions, Irregular transfusion, Delayed puberty