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Introduction: Hemoglobinopathies constitute a very important causative factor for anaemias of childhood. Two common hemoglobinopathies in India are Beta Thalassemia and Sickling disorders. Objective: The objective of this study is to know the hematological findings in various types of hemoglobinopathies & their distribution in various age and sex groups & communities, so that a solid conclusion can be made about screening of these hemoglobinopathies on high risk basis. Material and Methods: This is an observational study in 100 known patients of hemoglobinopathies who came to a tertiary care hospital from September 2015 to September 2018. Screening hematological tests for hemoglobinopathies such as complete blood count indices with Mentzer’s Index, Sickling test & peripheral blood smears were performed on all the patients and analyzed. Results: All the patients were having characteristic hematological findings. Among the 100 patients there were 56 males and 44 females with age group ranging from 1 year to 32 years. 54% patients were having Beta Thalassemia, 40% patients were having Sickle cell disorder & 6% were having combination of both. Beta Thalassemia was most common in Bhanushali community and Sickle cell disorder was most common in Lohana community. Conclusion: Hemoglobinopathies can be diagnosed earlier with meticulous use of simple & cost effective hematological screening tests in high risk age groups and communities in developing countries like India.

BACKGROUND Sickle cell anaemia is the most common disease entity of all the monogenic disorders. In the absence of any definitive treatment, to reduce the disease burden and the associated morbidity and mortality, a simple, low-cost test to assess the presence of Hb S and also to differentiate the homozygous and heterozygous forms, is required. METHODS This study was carried out in the Department of Pathology of MKCG Medical College, Berhampur, where samples of 130 cases (50 cases of sickle cell trait and 50 cases of homozygous sickle cell disease along with 30 cases of normal haemoglobin pattern) diagnosed by CE-HPLC were subjected to modified haemoglobin solubility testing and cases were classified as Hb AA, Hb AS and Hb SS depending upon presence/absence of red precipitate and colour of lower layer. RESULTS Out of the 130 cases in the study, there was agreement with the findings of CEHPLC in 123 cases (accuracy of 94.62%). All 50 cases of homozygous SCD formed a red precipitate, but in 4 of those cases a diagnosis of SCT was made by the solubility test. Similarly, 47 of 50 trait cases were correctly diagnosed but other 3 cases were diagnosed as having normal pattern. Sensitivity and specificity of the solubility test in differentiating cases of homozygous and heterozygous sickle cell disease came out to be 92% and 100% respectively. CONCLUSIONS The modified haemoglobin solubility test is a simple and cheap test with high degree of accuracy that can be carried out by health workers at the peripheral level, with minimum requirement of training and equipment. It can be used as a preliminary screening as well as differentiating test.

Background: Sickle cell disease (SCD) is a common genetic haematological disorder present in most countries in sub-Saharan Africa. In Tanzania, between 50% and 75% of the children born with SCD die before reaching the age of 5 years. The objective of this study was to determine the prevalence of SCD in children under 5 years of age attending Mbeya Referral Hospital between March and April 2014. Methods: We conducted a hospital-based, cross-sectional, descriptive study in which 50 children under 5 were included at Mbeya Referral Hospital in southern Tanzania. Full blood counts were conducted using SYSMEX KX 21 and SYSMEX XT 2000i haematology analysers. The presence of haemoglobin S was determined using the sodium metabisulfite sickling test on blood samples with haemoglobin levels less than 10 g/dl. Results: Blood samples from 50 infants and children under 5 were tested for sickle cell anaemia. Of these, 9 (18%) participants were found to be sickling test positive, 5 (55.6%) of whom were male and 4 (44.4%) were female. Almost half (n=4, 44.4%) of the SCD-positive children were between 25 and 36 months old, while the rest were between 13 and 24 months (n=2, 22.2%), 37 and 48 months (n=1, 11.1%), and 49 and 60 months (n=2, 22.2%) of age. Conclusion: At our facility, among children under 5 with serum haemoglobin levels

Resume Position du probleme Le depistage neonatal de la drepanocytose s’impose en Afrique ou la maladie est plus frequente. L’electrophorese de l’hemoglobine permet ce depistage, mais son usage est limite par un cout eleve et des difficultes d’acces. Le test d’Emmel, plus abordable et techniquement plus accessible est souvent demande dans le bilan prenatal des gestantes en Afrique, pour reserver le depistage aux nouveau-nes issus de meres chez qui le test positif atteste la presence d’hemoglobine S. Cette etude se propose d’evaluer le nombre de naissances drepanocytaires non reperees dans le cadre d’une politique de depistage ciblant les seules naissances issues de meres chez qui le test d’Emmel serait positif. Methodes De 2010 a 2012, a Bamako, Mali, 2489 nouveau-nes ont fait l’objet d’un depistage systematique de la drepanocytose, au niveau du cordon ombilical ou du talon, par isoelectrofocalisation, completee au besoin par une chromatographie liquide haute performance. Ces nouveau-nes etaient issus de 2420 meres dont l’hemoglobinique a ete etudiee par isoelectrofocalisation. Les donnees ont ete enregistrees et traitees a l’aide du logiciel Excel dans sa version 14.0.0. Nous avons calcule la frequence du gene drepanocytaire chez les populations des meres et des nouveau-nes depistes ainsi que le nombre de nouveau-nes drepanocytaires nes de meres heterozygotes ou homozygotes C. Resultats Parmi les 2489 nouveau-nes, 16 etaient drepanocytaires majeurs dont 6 SS et 10 SC ; 198 avaient le trait drepanocytaire ; 139 etaient AC et 1 etait CC. Parmi les 10 drepanocytaires majeurs SC, 3 etaient nes de meres n’ayant pas le drepanocytaire S, mais porteuses du gene C de l’hemoglobine et chez lesquelles, un test d’Emmel aurait ete negatif. Conclusion Un depistage neonatal cible, base sur les resultats du test d’Emmel chez les femmes enceintes, meconnaitrait plus d’un drepanocytaire majeur sur six qui serait ainsi prive d’une prise en charge adaptee precoce. Des etudes de rapport cout/efficacite d’un depistage neonatal systematique de la drepanocytose doivent conduire a une meilleure strategie de depistage a adopter dans les contextes ou la mutation S coexiste avec d’autres mutants hemoglobiniques.

Background: Sickle cell disease (SCD) is an inherited blood disorder caused by abnormal haemoglobin. Present study was done to study the relationship of clinical presentation & haematological findings in case of symptomatic & asymptomatic sickle cell disorder patients . Methods: In the present study, the RBC parameters like Hb, MCV, MCH, MCHC, RDW, RBC COUNT & PCV were recorded & results of sickling test & Hb electrophoresis were used to confirm a case of sickle cell disorder. Result: Categorical Variables (age &sex ) were expressed in actual number & percentages. Continuous variables ( Hb, MCV, MCH, MCHC, RDW, RBC COUNT & PCV ) were presented as Mean. Continuous variables were compared between Sickle cell disease subjects, sickle cell trait subjects & normal subjects by one way Analysis of Variance (ANOVA) test.p value < 0.05 was considered to be statistically significant Conclusion: The most number of symptomatic patients of sickle cell disorder were found in the 2 nd decade of age, followed by 3rd decade. There was a greater percentage of female subjects detected as sickle cell Disease (52.7%) & Sickle cell trait (62.8%) which points towards female preponderance of sickle cell disorder. Weakness & fatigue were the predominant symptoms of presentations among both sickle cell disease & sickle cell trait subjects. The peripheral smear examination in sickle cell disorder predominantly shows normocytic to microcytic with hypochromic picture. DOI: 10.21276/APALM.1247

Background: There is scarcity of information on the incidence of inherited thrombophilia from our country. The present study was conducted to assess thrombotic events in children. Materials & Methods: The present study was conducted in the department of Pediatrics. It comprised of 38 children. Patients were subjected to complete hemogram, sickling test, immunological evaluation etc. Risk factors for thrombotic events were recorded. Results: Out of 38 patients, 16 were of VTE and 22 were of ATE. The most common VTE was due to central venous catheter seen in 6 cases. Most common ATE was due to thrombophilias seen in 5 cases. Other reasons in VTE were immobilization seen in 2, trauma in 1, infections in 2, dehydration in 2. Other reasons in ATE were immobilization seen in 2, trauma in 4, infections in 3, dehydration in 3 and unknown in 4 cases. The difference was significant (P< 0.05). Conclusion: Thrombotic events in children are emerging problem. The most common reason for VTE was central venous catheters and in ATE was thrombophilias.

Objectives: To know the prevalence of sickle cell disease in 0-15 years old children of tribal area and to study its clinical and hematological profile. Materials and Methods: This cross sectional study was conducted between May 2014 and December 2015 in children below 15 years of age from tribal area of Sirohi and Udaipur district in South Rajasthan. Results: A total of 1090 children in tribal area were screened for sickle cell disease. Prevalence of sickle cell disease was found to be 8.53% of which 0.77% children were suffering from sickle cell anemia (HbSS), whereas 7.7% were having sickle cell traits (HbAS). Common morbidities were anemia, pain, infection, and splenomegaly. Conclusion: Sickle cell disease is prevalent in this area. Screening for sickling in this area is suggested for early diagnosis and to promote preventive measures so as to decrease morbidity and mortality.

Anaemia among women is a major public health concern globally. In developing countries, nutritional anaemia may be due to poor bioavailability of dietary iron, haemoglobinopathies, or intestinal parasites. The study objectives were to determine the prevalence of anaemia and current nutrient intakes essential to erythropoiesis among women of reproductive age (WRA) in peri-urban settlements in the Ga-East Municipality, Accra, Ghana. This cross-sectional study assessed the nutrient intake, sickling and haemoglobin levels of 134 women aged 15-49 years enrolled in a peanut-based field trial at baseline. A pretested semi-quantitative food frequency questionnaire was used to assess energy and nutrient intake using the Food Processor (ESHA) software. Whole blood was used to determine full blood count using the haematology automated analyser. Sickling was determined by blood staining. Anaemia was classified based on recommended cut-offs. Chi-square analysis was used as a test of independence between anaemia and age groups. Linear regression was used to determine predictors of haemoglobin concentration. The mean age of the women was 29 ± 8 years. The mean total caloric intake was 2315 ± 915 kcal, whilst protein and fat intakes were 67 ± 27g and 68± 30g, respectively. Almost three-quarters of the women met the recommended dietary allowance (RDA) for iron and vitamin C. However, only a third met the RDA for fat, and about two-thirds met their needs for energy and protein. None of the women met the RDA for folate which is integral for haem formation. Also 17% (23/134) of the women were sickle cell anaemia positive. Mean haemoglobin concentration was 12.1 ± 1.8 g/dL. Mild, moderate and severe anaemia due to iron deficiency was present in 35.8%, 6.7% and 1.5%, of the women respectively. All categories of anaemia was present in 44% of the women. Anaemia, prevalence increased during the early stages of the reproductive age (15-29 years) and declined towards the end of the reproductive age period (40-49 years). An increase in age of one year was significantly associated with a 0.056 g/dL rise in haemoglobin level (p=0.014). Anaemia due to iron deficiency exists as a public health problem among women in peri-urban settlements in the Ga-East Municipality, Accra, Ghana. Dietary diversity to include green leafy vegetables which are rich in folate and pro-vitamin A may reduce the current level of prevalence. Key words: Anaemia, Nutrients, Peri-urban, Women, RDA, sickling test, Food Processor software

Background Thalassaemia and other structural haemoglobinopathies are the major genetic disorders prevalent in certain parts of the world including India. This study presents the pattern of haemoglobinopathies amongst the referred patients of anaemia in a two-year period. Methods A total of 1032 patients were studied during a two-year period for anaemia investigation. Haematological indices, sickling test and haemoglobin electrophoresis with quantification of the bands was done in all cases. Result Out of 1032 cases, 774 (75%) were normal and 258 (25%) cases had abnormal haemoglobin pattern. Of the 258 abnormal cases, 136 (53%) were males and 122 (47%) were females. Of all cases of anaemia 370 (36%) were microcytic hypochromic, 237 (23%) macrocytic, 151 (15%) were dimorphic and the rest (26%) had normocytic normochromic picture. 82% of microcytic hypochromic anaemias had reduced serum iron and elevated total iron binding capacity (TIBC), whereas 85% had decreased serum ferritin levels. Spectrum of haemoglobinopathies prevalent were β-Thalassemia trait (17%), followed by sickle cell trait (2.3%). Other haemoglobinopathies in descending order of frequency were sickle cell disease (1.7%), Hb D trait (1%), Hb E trait (0.8%), sickle cell – β thalassemia, Hb E disease, E – β thalassemia (0.6% each) and thalassemia major (0.4%). Conclusion This study provides a comprehensive database on the spectrum of haemoglobinopathies in the Armed Forces. It is suggested that detection of HbA2 should be carried out in all the high-risk groups with anaemia.

Tribal communities constitute a major chunk of population in India. They are vulnerable to many hereditary disorders of erythrocytes. Hemoglo- binopathy is one of them. The present study has been carried out in Bhuyan and Kharia tribes of Sundargarh district in Orissa state. Following the probability proportionate to size (PPS) cluster sampling procedure, a total of 1002 blood samples of tribal subjects (244 Bhuyan and 758 Kharia) were screened for different hemoglobinopathies. Laboratory analyses were carried out taking the complete hemogram, performing NESTROFT and sickling test, hemoglobin electro- phoresis, estimation of fetal hemoglobin and of A 2 fraction of adult hemoglobin following the standard procedures. Study showed the high prevalence of hemoglobinopathies (13.1%) in both Bhuyan and Kharia tribe. For the first time, hemoglobin E has been detected in a tribal population, i.e. Delki Kharia in the state of Orissa. Except beta-thalassemia trait, no other hemoglobinopathy was detected in Dudh Kharia tribe showing their genetic isolation from Delki Kharia. The over-all prevalence of different grades of anemia is much higher in Bhuyan tribe (89.9%) than in Kharia tribe (73.8%). The clinical and hematological picture of sickle cell disorders in the present study is consistent with the previous studies from Orissa. It is interesting that as we move from lower age categories to higher age categories, the number of cases of hemoglobinopathy goes on decreasing in both Kharia and Bhuyan tribes under natural environmental conditions showing probably age specific mortality. These findings have been discussed in the light of previous studies available from the state of Orissa.

BACKGROUND: Sickle cell disease (SCD) describes a group of inherited red blood cell disorders. People with SCD have abnormal haemoglobin (Hb), called Hb S. In all forms of SCD, at least one of the two abnormal genes causes a person's body to make Hb S. In countries with limited resources, diagnostic technique should be simple and easy to perform with high sensitivity and specificity. METHODS: This study compared the paperbased sickle cell test and sodium metabisulfite sickling test using Hb electrophoresis as a gold standard. It was a crosssectional hospitalbased study which was conducted from July to October 2017 involving a total of 140 blood samples of under 10 years children presumed to have SCD. Blood samples in ethylenediaminetetraacetic acid anticoagulantcontaining vacutainers were used for SCD diagnosis by using paperbased and sodium metabisulfite sickling tests then confirmed by Hb electrophoresis as the gold standard. RESULTS: Blood specimens were from individuals aged 4 years ranged from 2 to 9 years. Slightly majority of blood specimens belonged to males, 54.3% (76/140) while the majority was from inpatients, 82.9% (116/140). Paperbased sickle cell test identified 46/140 (32.9%) Hb AA, 81/140 (57.9%) Hb, and 6/140 (4.3%) Hb AS. Sickling test identified 50/140 (35.7%) Hb AA and 87/140 (62.1%) Hb SS. Hb electrophoresis identified 50/140 (35.7%) Hb AA, 83/140 (59.3%) Hb SS, and 7/140 (5%) Hb AS. The paperbased sickle cell test had a sensitivity of 97.8% and specificity of 96.7% while the sickling test had the sensitivity of 96.7% and specificity of 100%. CONCLUSION: Paperbased sickle cell test was able to detect sickle cell carriers, Hb AS and shown high sensitivity and specificity; therefore, it can be used as a substitute for sickling test in countries with limited resource. However, paperbased sickle test is suitable for adults' population.

Hemoglobin Q-India is a very rare alpha-chain structural variant caused by the mutation AAG-->GAG (Asp-->His) in the position of codon 64 of the alpha1 gene. Usually it presents in the heterozygous form with electrophoretic mobility in the position of hemoglobin S (HbS) at alkaline pH along with the double bands of HbA2. High-performance liquid chromatography (HPLC) retention time of 4.76 minutes for this abnormal Hb variant identifies it to be HbQ-India. Only isolated case reports exist in literature to describe this rare entity. On cellulose acetate electrophoresis at alkaline pH, the HbQ band can easily be misinterpreted as HbS or HbD if careful screening of the patient for sickle cell with solubility test or sickling test is not done and the abnormal HbA2 band is overlooked. We report a case and emphasize the importance of careful screening with electrophoresis and HPLC in the diagnosis of this rare condition

Bien que les analyses hématies falciformes, la solubilité et le film sanguin périphérique soient aujourd’hui disponibles pour le dépistage de la maladie drépanocytaire en Ouganda, leur fiabilité et aisance d’applicabilité n’ont pas été déterminées. Cette étude a été, par conséquent réalisée pour déterminer la fiabilité de la méthode de dépistage des analyses des hématies falciformes et de la solubilité ainsi que le film sanguin périphérique pour la SCD (sigle anglais pour Sickle cell disease) en Ouganda. Ceci a été une étude descriptive basée au laboratoire et réalisée par le Collège des Sciences de la Sante de l’Université de Makerere. Les 200 prélèvements des enfants ages de 6 mois à 5 ans ont été analysés de façon indépendante en utilisant la méthode des analyses d’hématies falciformes, la solubilité et le film sanguin périphérique. L’acétate de cellulose de l’électrophorèse de l’hémoglobine a été utilise comme échantillon. Les analyses des hématies falciformes et de solubilité ont eu la sensibilité de 65,0% et 45,0%, respectivement, et le film sanguin périphérique a eu 35,0%/. Les hématies falciformes, la solubilité et le film sanguin périphérique ont eu les spécifications de 95,6%, 90,0% et 96,7% respectivement. Les hématies falciformes ont eu la précision diagnostique de 92,5%, la solubilité – 85,5% et le film sanguin périphérique – 90,5%. Les hématies falciformes ont eu le Kappa de Cohen de 0,6, la solubilité – 0,3 et le film sanguin périphérique – 0,4. L’analyse des hématies falciformes a eu une période de rotation de 38 minutes, la solubilité – 70 minutes et le film sanguin périphérique – 44 minutes. En conclusion, l’analyse des hématies falciformes a été plus fiable et plus facile à exécuter que l’analyse de la solubilité et la méthode de film sanguin périphérique. Elle serait, par conséquent, une analyse recommandée pour le dépistage préliminaire des enfants pour la SCD aux centres de santé IV au niveau de districts et confirmer seulement les résultats positifs en utilisant l’électrophorèse de l’hémoglobine.KEY WORDS: Screening - Sickling and solubility tests -Peripheral blood film - Sickle cell disease - Uganda.

Objective The objective of this study was to assess the prevalence, gender differences, and time trends of Sickle Cell Trait in the Southern Suburb of Beirut, Lebanon, as well as to highlight the importance of screening for Sickle Cell Trait carriers in this population. Another objective was to describe a new screening technique for Sickle Cell Trait carriers. Methods This was a retrospective cohort study carried out at a private laboratory in the Southern Suburb of Beirut, Lebanon between 2002 and 2014. The sickling test was carried out for each patient using two methods: the classical “sodium metabisulfite sickling test”, and the new “sickling test method” used in the private lab. As a confirmatory test, hemoglobin electrophoresis was run on a random sample of 223 cases which were found to be positive using the two sickling tests. Results A total of 899 cases were found to be positive for the sickle cell trait out of 184,105 subjects screened during the 12-year period, prevalence = 0.49% (95% CI: 0.46 – 0.52). Among the total sample, females were found to have higher prevalence, where no time trend over the studied period was noted. The haemoglobin electrophoresis method confirmed the results of this new sickling test technique among the random sample of the 223 cases. Conclusion We found that the prevalence of sickle cell trait is lower as compared to other Arab countries, higher in females, with no significant time trend. The sickle cell test was found to be an accurate, simple and cheap test that could be easily added as a requirement for the pre-marital testing to screen for Sickle Cell Trait carriers.

We examined 510 healthy people aged, 2 years to 60 years, to ascertain the predominance of sickle cell disease and trait among the sub-urban population of Nnewi and environs. The subjects were selected randomly from volunteers of two primary schools and secondary schools as well as from a market community in Nnewi. Their blood samples were collected by aseptic technique into labeled EDTA containers, and were stored in the refrigerator at 40 oC. they were analyzed within two days for the sickling test and Haemoglobin electrophoresis. The sampling was done between the months of February 1997 and July 1997. The hemoglobin electrophoretic pattern showed a distribution of 80, 4% Hb.AA; 19.2% Hb.AS; 0.4% Hb.AC; Hb.SS and Hb.SC 0%. This finding will serve as a guide in genetic counseling of would be couples in marriage. It will also help to eradicate the incidence of Hb.SS homozygotes with all its attendant social problem, as well as the double-heterozygotes Hb.SC. Journal of Biomedical Investigation 2004;2(1): 42-45

After taking capillary blood samples, we used the sickling test and paper and agar gel electrophoresis to diagnose the sickle cell trait and sickle cell anaemia in children in Zambia. The results of a survey of 1,707 children under the age of 4 years, not suspected of having sickle cell anaemia, are presented. A diagnosis was made with confidence in children over 3 weeks of age. This simple screening system can be easily introduced for the large scale examination of children attending postnatal or paediatric clinics. The size and seriousness of the problem of sickle cell anaemia certainly merit this in African children, wherever medical supervision is available. A differential mortality between children of haemoglobin AA and haemoglobin AS types has been confirmed. The possible role of the sickling trait in protecting against general infections as well as malignant malaria is discussed.

IN 1955 Rucknagel et al.1 described a new abnormal hemoglobin in a Negro family in North Carolina. This hemoglobin, designated "I", migrated more rapidly than normal hemoglobin on filter-paper electrophoresis at pH 8.6, and constituted about 20 per cent of the total hemoglobin present. The following report concerns a patient with a similar I-A electrophoretic hemoglobin pattern in whom the I hemoglobin constitutes 70 per cent of the total hemoglobin. Despite the absence of S hemoglobin in the red cells of this patient, the sodium metabisulfite sickling test was found to be positive.2 Clinical Data J.W., a twenty-five-year-old Negro woman, . . .

Loh, Wei-Ping: Evaluation of a rapid test tube turbidity test for the detection of sickle cell hemoglobin. Amer. J. Clin. Path. 55: 55-57, 1971. A rapid turbidity test for detection of hemoglobin S is described and compared with the standard metabisulfite sickling test and electrophoresis. On the basis of 2,355 patients studied during an 18-month period, the new rapid test was found to be accurate and easy to perform. The test requires only 5 min. to complete. Routine use of this test for Negro patients before major surgery helped in the selection of anesthesia and prevention of unexpected deaths due to hypoxia. The test is expected to be extremely valuable for mass screening when rapid detection of hemoglobin S is desirable. THREE YEARS AGO I encountered three un­ expected surgical deaths in young Negroes who dietl during or immediately after major abdominal surgery. Postmortem ex­ amination of two of the three patients revealed no clear-cut cause of death. Hemo­ lytic reactions and vascular complications due to prolonged hypoxia in the presence of sickle cell hemoglobin (Hb-S) were sus­ pected to be factors in the fatal outcome. It was clear that rapid detection of such abnormal hemoglobin before major surgery would be helpful in the selection of anes­ thesia anil in prevention of hypoxia in order to avoid unexpected surgical deaths. Deoxygenated (reduced) Hb-S is less solu­ ble than oxygenated Hb-S and less soluble than reduced normal adult hemoglobin

To the Editor:— The paper of Schneider, Alperin, and Lehmann (202:419, 1967) pointed out the occasional difficulties and pitfalls of the standard sickling test performed in the clinical laboratory. A much simpler and more reliable test for the clinical laboratory is the slideelution test which we developed a few years ago (Blood24:198, 1964). This test is based on the fact that hemoglobin S is insoluble in high molar phosphate buffer. Blood smears are prepared from capillary blood in the same way as for staining, but the unstained slides are placed into Coplin jars filled with 50 ml of 2.4 O M phosphate buffer (20.9 g/100 cc of K2HPO4and 16.3 g/100 cc of KH2PO4; the solution is stable and we have used it for longer than three months after preparation). Just prior to the placement of the slide a small amount