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.

Initial outcomes of a comprehensive care model for sickle cell disease among a tribal population in rural western India

“…The comprehensive sickle cell program met the major SCD quality of care indicators with the majority of patients enrolled in the program receiving the planned interventions. 19 79% of patients were vaccinated for pneumococcus, which was a marked improvement from the baseline vaccination rate of 0.6%.…”

“…Patients are scheduled for outpatient clinic visits every three months, where they receive laboratory monitoring, preventive and chronic disease care as recommended by national and international guidelines (Table 1). [18][19] Patients receive pneumococcal vaccination, folic acid supplementation, and patients under age five receive amoxicillin prophylaxis. Hydroxyurea is prescribed for those patients who have any of the following in the previous year: ≥3 pain crises, ≥hospitalizations, ≥3 blood transfusions or a history of acute chest syndrome, splenic sequestration crisis, and avascular necrosis of the bone or ischemic stroke.…”

Analysis and Quantitation of Glycated Hemoglobin by Matrix Assisted Laser Desorption/Ionization Time of Flight Mass Spectrometry

“…Although hemoglobin A is expressed in~95% of the population, there are more than 1200 know variant hemoglobin forms [48,49]. There is great interest and need for the accurate detection and assignment of hemoglobin variants chains, not only for the blood glucose assessment but for the potential diagnosis of other medical disorders (sickle cell anemia, thalassemia) [50,51]. Although MALDI-TOF MS may not be suitable for distinguishing all variants, as cases exist where the mass difference between forms is only ±1 Da (i.e., HbC and HbE), there are many other hemoglobin variants that are expected to be readily detectable.…”

Correlation between Body Mass Index and Hematological Indices in Young Adult Nigerians with Different Hemoglobin Genotypes

“…The use of Complete blood count alongside red cell indices is essential in the preliminary investigation of haemoglobinopathies [36]. In comparison with the other haemoglobin groups, mean haemoglobin concentration, red blood cell counts and packed cell volume in the group with Hb SS were lower than the others.…”