RESUMEN
Background & objectives: Sickle cell disease (SCD) constitutes frequently inherited haemoglobin disorders and poses a significant health burden in India. Hydroxyurea (HU), the most commonly used drug, has shown promising results in the clinical management of SCD. The present systematic review was undertaken to assess the efficacy and toxicity of HU in Indian sickle cell patients. Methods: A systematic review of studies on HU therapy was conducted to identify the application of HU and its outcome(s) across India. PubMed, Scopus and Cochrane Library was used as data sources for various studies on the efficacy and toxicity of HU therapy for treatment for SCD in India published between January 2001 and October 2021. Two authors independently extracted the data on study design, patient characteristics and therapeutic outcomes of HU in order to determine the study quality of the present review. Results: Overall, 14 studies were included for a systematic analysis. Of these 11 were prospective, two cross-sectional and one double-blind randomized controlled trial. Low-dose HU (10 mg/kg/day) was found to reduce the rates of vaso-occlusive crisis and hospitalization as well as decreased the requirement of blood transfusion in SCD patients. The foetal haemoglobin (HbF) level was recorded in 13 (80%) studies all of whom reported an elevation in the HbF levels, with a mean increase in per cent HbF from 15.8 to 21.4 per cent across studies. The common adverse events were reversible, mild-to-moderate cytopenia and anaemia. Interpretation & conclusions: The findings of the present review suggest that there is still insufficient information presently to determine the long-term or major adverse effects on organ damage, fertility as well as pregnancy on the use of HU therapy for SCD. Long-term multi-centric studies are thus required to address these problems.
RESUMEN
The therapeutic benefits of camel milk consumption are a supplement to routine sickle cell disease management. In maintaining hemolytic crises in sickle cell anaemia, patients were assessed during a six weeks study. Throughout the study, 20 patients were recruited for the study and divided into 4 groups, 5 patients per group. Group 2, 3 and 4 were treated with daily consumption of raw camel milk (100 ml, 50 ml + Folic acid + Paludrin and 100 ml + Folic acid + Paludrin respectively). In all groups, the foetal haemoglobin (Hb F), packed cell volume (PCV), platelet, red blood cell (RBC) and white blood cell (WBC) count were measured before initiation of the study and monitored at 2 weeks intervals for 6 weeks. In the group that took camel milk (50 ml in addition to Folic acid and Paludrin), there was a significant increase in WBC (8.16 ± 4.12 to 16.68 ± 3.53), a significant increase in PCV (21.28 ± 1.23 to 25.24 ± 1.11) with decrease in platelet (311.80 ± 61.93 to 260.40 ± 29.22) and significant increase in Hb F (7.06 ± 2.42 to 10.02 ± 2.41) compared to group 1 (control). However, there was no significant difference in the haematological parameters of group 2 and 4. The results implied that the consumption of camel milk in sickle cell patients resulted in an increase in foetal hemoglobin concentration which prevented crises in almost all the patients. Increase in foetal haemoglobin has been postulated to reduce hemolytic crises in sickle cell anaemia patients. Based on these findings, camel milk consumption may, therefore, be considered useful in the management of sickle cell diseases.
RESUMEN
Background & objectives: The amount of foetal haemoglobin that persists in adulthood affects the clinical severity of haemoglobinopathies including β-thalassaemia major and sickle cell anaemia (SCA). The present study was undertaken to analyse β-thalassaemia as well as SCA patients for the single nucleotide polymorphism (SNP), rs11886868 (T/C) in BCL11A gene and to evaluate the association between this polymorphism and severity of β-thalassaemia major and SCA. Methods: A total of 620 samples (420 β-thalassaemia major and 200 SCA cases) were analysed before blood transfusion using basic screening tests like complete blood analysis and osmotic fragility and further confirmed by high performance liquid chromatography (HPLC), amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) and reverse dot blot techniques. All patients were transfusion dependent. Patients with β-thalassaemia and SCA were classified into mild, moderate, severe according to the severity score based on Hb levels, age of onset, age at which patients received their first blood transfusion, the degree of growth retardation and splenectomy. β-thalassaemia as well as SCA patients were analysed for the SNP, rs11886868 (T/C) in BCL11A gene and association between this polymorphism and severity of β-thalassaemia major as well as SCA was evaluated. Results: There was a significant difference in genotypic and allelic frequencies of BCL11A gene polymorphism between mild and moderate and mild and severe cases in both the groups. A significant (P<0.001) difference was observed in the mean HbF levels between the three genotypes in different severity groups. HbF levels were found to be high in CC genotype bearing individuals followed by TC and TT in β-thalassaemia major as well as SCA. Interpretation & conclusions: This study confirms that the T/C variant (rs11886868) of the BCL11A gene causing downregulation of BCL11A gene expression in adult erythroid precursors results in the induction of HbF and ameliorates the severity of β-thalassaemia as well as SCA.