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1.
Article | IMSEAR | ID: sea-186290

ABSTRACT

Background: Hemoglobinopathies are genetically acquired diseases. When present in new-born and in children they need to be treated and can be life threatening many a times. In the adults they can be asymptomatic and can manifest as disease during stress. They may present with other signs and symptoms not related to hemoglobinopathies. Aim: To perform Hemoglobin (Hb) Electrophoresis to detect Hemoglobinopathies in patients not presenting with hematological problems coming to the Medical OPD at Gandhi Hospital. Materials and methods: 3 ml Ethylene Diamine Tetra Acetic Acid (EDTA) whole blood was collected from cubital fossa from patients and Hb Electrophoresis was carried out on BIORAD - D10 Results: Hb Electrophoresis of a total of 464 patients were carried out over a period of six months (July to December 2015) and14 cases of Sickle Cell Trait, 16 cases of Thalassemia Trait, 1 case of Hb E trait , 1 case of sickle cell disease and 1 case of sickle cell disease with low Hb A2 levels were identified. Conclusion: Hemoglobinopathies can present themselves in the adults without symptoms related to red blood cell disorders. So when Patients present themselves with other symptoms and are not being relieved of their complaints by the conventional treatment, Hb Electrophoresis can help in identifying the hemoglobinopathies, especially when the Hb is normal or near normal for that age and sex of the patient.

2.
Article | IMSEAR | ID: sea-186214

ABSTRACT

Sickle beta thalassemia is a disorder which represents the double heterozygous state for the Hb-S and the beta-thalassemia genes. The clinical and hematological manifestations of sickle beta thalassemia are highly variable due to existence of two types of genes, beta0 thalassemia gene and beta+ gene. Beta0 gene leads to complete absence of Hb-A levels, whereas beta+ gene leads to production of Hb-A levels 10-30%. This disorder is diagnosed by levels of HbS, HbA2 and HbF in Hemoglobin Electrophoresis. We are presenting one such young male patient with features of Sickle Beta+ thalassemia who presented with anemia, fatigue and joint pain with characteristic features of avascular necrosis of left hip joint in X-Ray and MRI. For the etiological diagnosis further investigation in the form of capillary haemoglobin electrophoresis and for final confirmation genetic analysis by PCR is done.

3.
Br J Med Med Res ; 2015; 10(9): 1-6
Article in English | IMSEAR | ID: sea-181831

ABSTRACT

Background: Sickling test and haemoglobin solubility test are screening techniques used to detect the presence of haemoglobin S, but can't identify exact phenotype or genotype. Haemoglobin electrophoresis can determine the phenotype of sickle cell disease but it cannot be performed on infants aged less than 6 months because of the presence of hemoglobin F as the predominant hemoglobin before this age and thus it is not suitable for prenatal and neonatal screening. This study aimed to compare PCR-based single tube genotyping of sickle cell disease with routine alkaline haemoglobin electrophoresis. Materials and Methods: This is a cross sectional-analytic study conducted at Khartoum state, Sudan in the period from November 2014 to March 2015. The total number of study subjects was 70, 35 of them with sickle cell anaemia (Hb S/S), 15 sickle cell trait (Hb A/S), and 20 healthy volunteers (Hb A/A). Blood samples were collected in EDTA blood tubes and genomic DNA was extracted from leucocytes by salting out method. Allele specific polymerase chain reaction (PCR) was used for genotyping of all samples. Alkaline haemoglobin electrophoresis was also performed on all subjects to confirm the phenotypes and the findings were compared with genotyping results. Results: Using alkaline Hb electrophoresis, 33(94.3%) out of 35 patients with provisional diagnosis of sickle cell anaemia were found to be S/S and 2(5.7%) were A/S; using PCR all the 35 patients were found to be S/S; the two patients who their phenotype was A/S while by PCR their genotype was S/S were found to have a history of recent allogenic blood transfusion. The results of Hb electrophoresis and PCR were in full agreement for both sickle cell trait individuals (A/S), and the healthy controls (A/A). Conclusion: Diagnostic accuracy of PCR based single tube genotyping of SCD is superior to routine alkaline haemoglobin electrophoresis particularly in situations of recent allogeneic blood transfusion and prenatal and neonatal screening.

4.
Article in English | IMSEAR | ID: sea-152387

ABSTRACT

Background & objectives: Anemia is considered as important clinical manifestation of haematological and non-haematological disease while thalassemia and sickle cell disease considered now as genetic disorders. The purpose is to investigate prevalence of anemia, β-thalassemia trait and sickle cell trait. Materials & Method: The present study was carried in 250 medical students (194 male & 56 female) for screening of for anemia, β thalassemia trait and sickle cell trait with help of tests like Haemoglobin estimation, Peripheral blood smear examination, NESTROFT and Dithionate turbidity test5,6 and Hb electrophoresis. Results: The prevalence of anemia was higher in female 25 (44.6%) as compared to male medical students 59 (30.4%) & difference was statistically significant (p<0.05) but anemia detected in male & female medical students was not correlated with MCV & PCV value (p>0.05). Only 2 (1.03%) male shows β thalassemia trait and sickle cell trait while in case of female 2 (3.57%) shows prevalence of β thalassemia trait & 1 (1.7%) shows prevalence of sickle cell trait. Conclusion: Knowledge of heterozygote for β-thalassemia trait and sickle cell trait impart great impact on society for genetic counselling and prevention of their offspring became homozygote for thalassemia major and sickle cell disease. Also evaluate sensitivity of simple screening test like NESTROFT and dithionate solubility test for detection of β-thalassemia trait and sickle cell trait.

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