Latest Research on blood disorders : Jan 2022

Genetic Blood Disorders Survey in the Sultanate of Oman

The Genetic Blood Disorders Survey is the first community-based survey in the Arabic world and the Middle East to determine the prevalence of the most common genetic blood disorders. The objective of the survey was to determine the prevalence of the most common genetic blood disorders reported among Omani children under 5 years of age in order to provide the planners and policy-makers with reliable information suitable for formulating health policies, planning, and evaluation. The survey was designed, executed, and financed by the Ministry of Health of the Sultanate of Oman. To reduce costs and save effort and time, data collection for the survey was implemented with the Gulf Family Health Survey (GFHS). The GFHS in the Sultanate of Oman is a research project undertaken by the Council of Health Ministers of the Gulf Co-operation Council States. The six member countries have participated in this GFHS project. A total of 6103 households were interviewed. From these households 6342 children under 5 years of age were taken by their parents to neighbourhood hospitals or health centres for blood collection. Fifty-one per cent of the sample were male and 49 per cent were female. Among the child respondents, 17.9 per cent were in the age group 0 to < 1 year, 20.3 per cent were in the age group 1 to < 2 years, 21.1 per cent were in the age group 2 to < 3 years, 20.5 per cent were in the age group 3 to < 4 years, and 20.2 per cent were in the age group 4 to 5 years. Fifty-five per cent of the mothers of the children studied were illiterate, 9 per cent could read and write but had less than primary education, 20 per cent had completed primary school, 9 per cent had attended preparatory school, 5 per cent had attended secondary school, 1 per cent had had intermediate education, while 0.6 per cent had completed university or higher education. The results of this survey revealed that haemoglobinopathies are prevalent in Oman; the prevalence of sickle cell trait was 6 per cent, and of beta-thalassaemia 2 per cent. The prevalence of sickle cell and homozygous beta-thalassaemia were 0.2 and 0.07 per cent, respectively. Other abnormal haemoglobins (Hb) have been detected in this survey; HbD (0.6 per cent), HbE (0.3 per cent), HbC (0.02 per cent). Combination of sickle cell with other abnormal Hb was also detected at low prevalence. Glucose-6-phosphate dehydrogenase (G6PD) enzyme deficiency had a high prevalence in Oman, being 25 per cent in males and 10 per cent in females. Among the children studied, three-quarters (74.5 per cent) were found to be free from haemoglobinopathies and G6PD normal, the rest (25.5 per cent), either had haemoglobinopathies (7.5 per cent), G6PD deficiency (16 per cent) or a combination of G6PD deficiency with at least one abnormal Hb (2 per cent). The prevalence of total haemoglobinopathies in Oman was 9.5 per cent. The prevalence of sickle cell trait varied between regions, North Sharqiya had the highest prevalence of 10 per cent. [1]


Human-induced pluripotent stem cells from blood cells of healthy donors and patients with acquired blood disorders

Human induced pluripotent stem (iPS) cells derived from somatic cells hold promise to develop novel patient-specific cell therapies and research models for inherited and acquired diseases. We and others previously reprogrammed human adherent cells, such as postnatal fibroblasts to iPS cells, which resemble adherent embryonic stem cells. Here we report derivation of iPS cells from postnatal human blood cells and the potential of these pluripotent cells for disease modeling. Multiple human iPS cell lines were generated from previously frozen cord blood or adult CD34+ cells of healthy donors, and could be redirected to hematopoietic differentiation. Multiple iPS cell lines were also generated from peripheral blood CD34+ cells of 2 patients with myeloproliferative disorders (MPDs) who acquired the JAK2-V617F somatic mutation in their blood cells. The MPD-derived iPS cells containing the mutation appeared normal in phenotypes, karyotype, and pluripotency. After directed hematopoietic differentiation, the MPD-iPS cell-derived hematopoietic progenitor (CD34+CD45+) cells showed the increased erythropoiesis and gene expression of specific genes, recapitulating features of the primary CD34+ cells of the corresponding patient from whom the iPS cells were derived. These iPS cells provide a renewable cell source and a prospective hematopoiesis model for investigating MPD pathogenesis.[2]


Drug-Induced Blood Disorders

A case-history study of drug-induced blood disorders (pancytopenia, hemolytic anemia, thrombocytopenia, and granulocytopenia) was carried out at the Group Health Cooperative of Puget Sound, a health maintenance organization with more than 200,000 members, for the ten-year period from 1972 through 1981. During this time, only 26 instances of hospitalization for such disorders were thought to be definitely, probably, or possibly due to drugs other than antitumor agents. The rate was of the order of one per 100,000 person-years at risk. Only quinidine/quinine and sulfa-containing drugs were implicated in more than one case.[3]


Cholecystitis – Mode of First Presentation of Sickle Cell Anemia in an Adult Nigerian: A Case Report

Background: This article aimed to sensitize the healthcare providers to the possibility of late and atypical presentation of sickle cell anemia (SCA).

Case Presentation: A 24 year old female university undergraduate presented to the Medical out-patient Department of our hospital with complaint of abdominal pain, vomiting, and yellowness of the eyes, all of 2 days prior to presentation. Abdominal pain was located at the right hypochondrial region, colicky in nature, not relieved nor aggravated by any known factor and does not radiate to any part of the body. There was associated vomiting, fever, weakness, and loss of appetite. Patient has been on apparent good health. No previous history of hospital admission(s), surgery nor blood transfusion. Physical examination showed an acutely ill-looking young girl in painful distress, febrile to touch, moderately pale, icteric, no pedal edema and no peripheral lymphadenopathy. Abdominal examination showed right hypochondrial tenderness, hepatomegaly and splenomegaly. A provisional diagnosis of hepatitis was made. However, in the course of investigations, there was no evidence of hepatitis rather cholelithiasis was reported by abdominal ultrasound scan. In the course of investigating for the cause of cholelithiasis, patient was diagnosed to have sickle cell anemia.. She subsequently had cholecystectomy done and is currently being followed up.

Conclusion: Patients with SCA usually present in infancy or early childhood with dactylitis, bone pain and/or symptomatic anemia which usually require frequent hospital admissions and blood transfusion especially in the absence of adequate care and follow up. This case is therefore to alert the health care providers to have high index of suspicion for late presentation in an atypical manner.[4]


Hepcidin and Erythropoietin Level in Sickle Cell Disease

Background: Sickle cell anaemia is an inherited disorder in which the red blood cells become rigid and sticky, and change from being disc-shaped to being crescent-shaped. The change in shape is as a result of an abnormal form of haemoglobin which leads to damage of some organs.

Aim: The study was carried out to determine the levels of hepcidin and erythropoietin in sickle cell anemia.

Materials and Methods: Thirty confirmed sickle cell patients in steady state (HbSS-SS) and thirty persons with normal hemoglobin (HbAA) between the ages of 15 to 30 years were selected in this study.

Results: The results obtained showed that the levels of hepcidinin sickle cell anaemia patients were significantly elevated when compared with normal haemoglobin (HbAA) (P<0.05). However, the levels of erythropoietin were significantly decreased in sickle cell anaemia stable state when compared to HbAA subjects (P<0.05).

Conclusion: This could probably imply that the elevation in hepcidin affect level of erythropoietin negatively. Therefore, it is possible that an antihepcidin could be developed as a therapeutic tool in sickle cell anaemia.[5]


Reference

[1] Al-Riyami, A. and Ebrahim, G.J., 2003. Genetic blood disorders survey in the Sultanate of Oman. Journal of tropical pediatrics, 49, pp.i1-20.

[2] Ye, Z., Zhan, H., Mali, P., Dowey, S., Williams, D.M., Jang, Y.Y., Dang, C.V., Spivak, J.L., Moliterno, A.R. and Cheng, L., 2009. Human-induced pluripotent stem cells from blood cells of healthy donors and patients with acquired blood disorders. Blood, The Journal of the American Society of Hematology, 114(27), pp.5473-5480.

[3] Danielson, D.A., Douglas, S.3., Herzog, P., Jick, H. and Porter, J.B., 1984. Drug-induced blood disorders. Jama, 252(23), pp.3257-3260.

[4] Immaculata, U.N., 2016. Cholecystitis–Mode of First Presentation of Sickle Cell Anemia in an Adult Nigerian: A Case Report. International Journal of TROPICAL DISEASE & Health, pp.1-4.

[5] Nnodim, J., Uche, U.B., Ifeoma, U.H., Chidozie, N.J., Ifeanyi, O.E. and Oluchi, A.A., 2015. Hepcidin and erythropoietin level in sickle cell disease. Journal of Advances in Medicine and Medical Research, pp.261-265.

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