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Query: UMLS:C0002871 (anemia)
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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. Dakhiliya (9 per cent), followed by Muscat and South Batinah 8 and 7.9 per cent, respectively. The prevalence of sickle cell trait declined by a half in Musandam, South Sharqiya, Dhahira, and North Batinah (4.7, 3.9, 3.9, and 2.9 per cent respectively). Dhofar had the lowest prevalence of 0.2 per cent and no cases of sickle cell trait were found in the Al-Wousta region in the sample selected. The prevalence of beta-thalassaemia trait ranged from 3.9 to 0.2 per cent. Three regions had high rates: North Batinah (3.9 per cent), Muscat (2.8 per cent), and Dakhiliya (2 per cent). The other five regions in the Sultanate have lower rates: Dhahira (1.7 per cent), Musandam (1.6 per cent), South Batinah (1.5 per cent), South Sharqiya (1.2 per cent), and North Sharqiya (1.1 per cent). The prevalence of beta-thalassaemia trait in Dhofar was 0.2 per cent and no cases were detected in the Al-Wousta region. The prevalence of G6PD deficiency reached 29 per cent in Dakhiliya, 26 per cent in South Batinah, 21 per cent in Dhahira, 19 per cent in Muscat and 17 per cent in North Sharqiya and North Batinah. The prevalence declined to 10 per cent in Musandam, 9 per cent in South Sharqiya, Dhofar had the lowest prevalence of 2 per cent and no cases of G6PD deficiency were found in Al-Wousta. The male to female ratio was 2.5:1. In all regions of the Sultanate, prevalence of G6PD deficiency in males were more than twice those in females. From the above rates, it could be calculated that in the whole Sultanate 44,733 children under 5 years of age have G6PD deficiency, 14,306 have sickle cell trait, 474 have sickle cell disease, 5393 have beta-thalassaemia trait, and 175 have beta-thalassaemia major. The study showed that the mean Hb level of children under 5 years of age was 10.9 g/dl for both males and females; the mean Hb level for males was 10.89 g/dl and for females 10.99 g/dl, the difference between males and females was significant. The study revealed that half of the children under 5 years of age were anaemic. Mild anaemia was predominant (46 per cent), while moderate and severe anaemia were 4 and 0.2 per cent respectively. The status of anaemia among children improved with age; mild anaemia was prevalent in 65 per cent of children between ages 0 to < or = 1 years then decreased with age until it reached 30 per cent at 4-5 years of age. The survey produced the first normal haematological indices for children under 5 years of age to be used as a reference in the country. The blood picture of the normal subjects in the survey showed that the mean Hb value for males was 11.9 g/dl and for females 11.8 g/dl. The children had reduced values of MCH and MCV compared to normal international values, the reason for this could be alpha-thalassaemia or iron deficiency. The children maintained high values of HbF (more than 1.2 per cent) even after their first birthday. HbF reached its normal level at 5 years of age. Marriage of first cousins among the parents of the children studied under 5 years of age was 34 per cent. Total consanguinity rate including second cousin relationships and beyond was 58 per cent. We recommend that a national prevention programme for genetic blood disorders be formulated by the authorities. The programme could be included in the Ministry of Health 5-year health development programme for prevention of non-communicable diseases which already exists.
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PMID:Genetic Blood Disorders Survey in the Sultanate of Oman. 1293 93

Haemoglobinometry as a primary point-of-care test is well established. This study was undertaken to assess whether haemoglobinometry by itself provides an adequate haematological screening procedure in general practice. In a series of 500 sequential blood counts received by the central hospital laboratory from local doctors, 405 (81%) had a normal haemoglobin. Full blood counts on these samples showed 15% with one or more blood count parameters outside 2SD of normal reference values, including increased MCV, low MCV with low MCH and MCHC, leucocytosis with neutrophilia, a few cases with neutropenia, lymphopenia, monocytosis or eosinophilia. When the limits were set at 3SD, these abnormalities were found in only 7.6% of the cases. Calculation of test utility gave a positive predictive value of 0.83, a negative predictive value of 0.85, with a likelihood ratio of 14.3 and an overall diagnostic reliability of 84%. It was concluded that haemoglobin alone is a valuable primary screening test and a full blood count is required only when anaemia is present or when the patient's history and clinical signs indicate the need for such further investigation. Using this protocol it is unlikely that any serious error will be made in diagnosing a clinically significant condition; the main limitation is failure to diagnose pre-anaemic iron deficiency.
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PMID:Haemoglobinometry in general practice. 1464 Nov 36

Evaluation of anemia: Before beginning epoetin treatment, it is essential to evaluate the level of anemia (Hb < 11-12g/dL) by the following measurements: -Hb concentration -Red blood cell indices (MCV, MCH, MCHC) -Reticulocyte count -Iron stores and availability -C-reactive protein (CRP) Target for anemia treatment: The minimum target Hb concentration to be attained is 11 g/dL. The upper limit is established individually on a clinical basis. Pending further data, it is advisable to maintain and not exceed 12 g/dL for patients with cardiovascular disease, diabetes, and graft access. Use of iron: At the start of epoetin treatment, 150 mg of iron are needed for every expected increase of 1 g/dL of Hb. It is important to achieve and maintain levels of TSAT > 20%, serum ferritin 100 mcg/L and hypochromic red cells > 6% both before initiating epoetin treatment and during its administration. TSAT levels should not persistently exceed > 50% and serum ferritin > 500 mcg/L. When administering oral iron the dose should be at least 200 mg/die elemental iron; on the other hand, when the intravenous route is used, the dose should be 30-60 mg/IV dose in the form of low molecular weight salts (iron sodium gluconate) while the higher doses should be reserved for patients with transferring levels > 170 mg/dL. Administration of epoetin: The dosage of epoetin is individual with more than tenfold variability among individuals and all aiming at the same target Hb concentration. There are no clinical parameters entirely capable of predicting the necessary dosage. Therapeutic range is very wide, without any toxic effects for clinical use up to 100.000 IU/week. The target Hb concentration is reached in most patients with mild anaemia after 2 months' treatment with 4.000-10.000 epoetin (20-50 mcg darbepoetin alpha) per week. The HB concentration, along with the reticulocyte count, must be checked weekly following initiation and monthly during maintenance. Patients with a stable dose-response during conservative therapy may require less frequent monitoring (every 2-3 months). Inadequate response to epoetin treatment If any resistance is encountered, after excluding all the acute and chronic conditions of inadequate response, the reticulocyte count (severe reduction in the presence of anti erythropoietin antibodies) and the erythropoietin dosage should be measured. The target Hb concentration 11-12 g/dL is maintained in 90-95% of the patients by administering 1.000-30.000 IU of epoetin (5-150 mcg darbepoetin alpha) per week in the presence of adequate reserves of iron. Higher dosages define a state of resistance. Diagnosis of pure red cell (PRCA) from anti-erythropoietin antibodies is confirmed by bone marrow examination (almost total loss of erythroblasts). If antierythropoietin antibodies are present or there is a well founded suspicion of PRCA, the administration of epoetin and other similar treatment should be avoided. Side effects of epoetin treatment: The treatment of anaemia with epoetin does not hasten the progression of CRF. Blood pressure is to be checked regularly during initiation of epoetin and the treatment should be discontinued in cases of refractory hypertension or hypertensive encephalopathy. There should be increased surveillance of graft access, especially in those patients who risk vascular depletion. In general, heparin requirements do not increase but it may be advisable to evaluate a dose increase. PRCA from anti-erythropoietin antibodies has been detected with an incidence ranging from 0.12 to 1.1 cases/every 10 thousand patients treated.
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PMID:[Guidelines for the treatment of anemia in chronic renal failure]. 1466 4

154 children with intestinal enzymopathies have been investigated. 57 of them were with celiac disease, 52--with multi-enzymatic deficiency syndrome (celiac + disaccharides deficiency), 45--with disaccharidase deficiency syndrome. The typical changes in blood of children with intestinal enzymopathies were presented in decreasing of MCV, MCH, MCHC and increasing of RDW. The study of ferrokinetics has shown that an anemia was caused by deficiency in many elements with predominance of iron-deficiency erythropoesis. The most sensitive and reliable indicators of early detection of latent anemia without decrease in hemoglobin level were ferritine content, the coefficient of saturation of transferrine and transferrin's receptors.
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PMID:[Specificity of ferrokinetics in children with enzymopathy of small intestine]. 1472 39

A total of 101 individuals who showed AS pattern on haemoglobin electrophoresis were included in this study and various haematological investigations were carried out on them. Of these, 79 cases were grouped as AS patients. Twenty two healthy relatives of sickle anemia patients were grouped as AS controls. Twenty AA controls were also included in this study. Haemoglobin S (HbS) and hemoglobin A (HbA) quantitation was carried out. The frequency distribution of HbS percentage showed that maximum subjects had HbS levels above 33%. A female predominance was seen in subjects of sickle cell trait. Haemoglobin levels and total red cell counts of AS patients were found to be significantly lower than those of AS controls. Reticulocyte counts and hematocrit values of AS patients were found to be significantly higher than AS controls. MCV and MCH values of AS patients were found to be significantly lower, but MCHC was not significantly altered.
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PMID:Study of haemoglobin S percentage and haematological parameters in sickle cell trait. 1502 89

We observed athletes performing marathons and ultramarathons in altitude over several years to study the behaviour of haematological parameters in order to screen eventual paraphysiological or pathological conditions (sports anaemia). We collected samples from 124 athletes participating in seven races; 23 athletes were recruited in different races: 16 for four times, four for three times, and three for two times. The pre- and post-race values of erythrocytes, haemoglobin and packed cell volume did not show statistically significant differences in the studied athletes. The erythrocytes' indices (MCV, MCH, MCHC) and red cell distribution width (RDW) also were not significantly modified by the strenuous effort. The leukocytes were significantly increased because of immunological involvement during the endurance performance. Platelets and relative indices were not significantly modified. The stability of packed cell volume and haemoglobin in athletes performing training and races in altitude is strong evidence for the use of these parameters as an index of general health status and for illustrating possible abnormal increase because of exogenous stimulation of bone marrow. The preanalytical and analytical accuracy is crucial to assure clinical validity of the collected data: we strictly observed international recommendations in this field.
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PMID:Behaviour of haematological parameters in athletes performing marathons and ultramarathons in altitude ('skyrunners'). 1559 93

Hemoglobin (Hb) C (alpha2beta(2)6Glu-Lys) is a variant Hb found mainly in West Africa where individuals carrying both Hb C and Hb S (alpha2beta(2)6Glu-Val) usually have a disease similar to sickle cell disease. The Hb C molecule has reduced solubility leading to crystal formation and hemolytic anemia. We report a hitherto undescribed interaction of Hb C and Hb Malay (alpha2beta(2)19Asn-Ser) in a Thai individual. She was a 24-year-old pregnant woman with moderate anemia who had the following hematologic data; Hb 8.9 g/dl, Hct 30.0%, MCV 81.0 fl, MCH 24.1 pg, MCHC 29.7 g/dl, RDW 17.1% and instead of Hb crystal a marked number of target cell in peripheral blood was observed. Hb analysis revealed 22.5% Hb Malay, 64.6% Hb C and 4.5% Hb A2. Globin gene analyses demonstrated that she carried the betaC mutation (beta6: GAG-AAG) in trans to the betaMalay mutation (beta19: AAC-AGC). Hematologic data of the patient were compared to those of the compound heterozygote for Hb C and Hb E (alpha2beta(2)26Glu-Lys) found in 5 other unrelated Thai pregnant women and 11 pregnant women with Hb C heterozygote with or without co-inheritance of alpha-thalassemia who had much lower Hb C levels and the non-pregnant women with Hb C heterozygote and a compound Hb E/Hb Malay syndrome. Different genotype-phenotype correlations observed in these Thai patients with Hb C disorders are illustrated.
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PMID:Compound heterozygote states for Hb C/Hb Malay and Hb C/Hb E in pregnancy: a molecular and hematological analysis. 1598 9

In patients with iron deficiency anaemia (IDA) it has been suggested that the shortened erythrocyte lifespan may be in part due to decreased erythrocyte deformability. In order to know whether erythrocyte deformability is decreased in IDA patients, we have determined the erythrocyte Elongation Index (EI) by means of ektacytometric techniques (Rheodyn SSD, Myrenne Gmbh, Germany), in 50 IDA patients and 100 well age and sex matched healthy controls. At the three shear stresses tested, 12, 30 and 60 Pa, IDA patients show statistically lower EI than controls (37.4+/-6.7 vs 48.6+/-2.9; 45.0+/-6.0 vs 54.5+/-2.8; 48.7+/-5.8 vs 57.0+/-2.9 mPa.s, respectively; p<0.001). A statistically significant correlation was found between EI at 12, 30, and 60 Pa and the hematimetric indices (MCV, MCH and MCHC), suggesting that the alteration in surface/volume ratio (shape) which characterizes this kind of microcytic hypocromic anaemia, accounts in part for the decreased EI. Rheodyn SSD, as an ektacytometric technique, is very sensitive to alterations in red blood cell geometry, for what seems to be a useful tool for detecting diminished erythrocyte deformability in IDA patients.
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PMID:Red blood cell deformability in iron deficiency anaemia. 1603 35

The aim of this study was to evaluate the efficacy and tolerability of iron protein succinylate in the treatment of iron-deficiency anemia in pregnancy. One hundred and thirty anemic pregnant women were studied. Inclusion criteria were iron-deficiency type of anemia, and hemoglobin levels below of 11.5, 10.9 and 10.3 g/dl for the three trimesters of pregnancy, respectively. Twenty-five women who presented pregnancy-related complications were excluded during treatment. The remaining 105 were treated with 1600-mg iron protein succinylate per os daily for a period of four months. A group of anemia-related clinical signs and symptoms, and hematological parameters were recorded at the beginning of treatment, as well as two and four months later. They included epidermis and mucosal paleness, skin and nail lesions, glossitis, heart pulse, sickness, anorexia, apathy, ataxia, polypnea, insomnia, nervousness, paresthesias and other neurological symptoms; the hematological parameters included Hgb, hct, RBCs, WBCs, MCV, MCH, MCHC, PLTs, serum Fe and ferritin. Possible side or adverse effects were considered during treatment. The majority of symptoms and signs of anemia were gradually improved. There was a statistically significant increase in the means of Hgb, hct, WBCs, MCV, MCH, PLTs and serum ferritin (p < 0.05). Anemia was effectively treated in 100/105 (95.2%) women, but not in five patients (4.8%) who displayed poor compliance to the therapeutic protocol. There were transient and mild side-effects in seven (6.6%) treated women, namely diarrhea, epigastralgia, vomiting, and nausea, which however, did not necessitate discontinuation of the therapeutic protocol. Iron protein succinylate is an effective and well tolerated treatment of iron-deficiency anemia in pregnancy.
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PMID:The efficacy and tolerability of iron protein succinylate in the treatment of iron-deficiency anemia in pregnancy. 1610 96

Five hundred and thirteen unrelated subjects belonging to various tribes of West Bengal, Arunachal Pradesh and Assam in Eastern India, were screened for the presence of alpha-thalassemia (thal) gene deletion(s) as a possible cause of unexplained anemia (Hb < 11 g/dL and/or MCH <28 pg, MCV < 78 fL). As reported earlier, beta-globin gene mutant alleles were found with a frequency of up to 20% in some tribes. In the present study, alpha-globin gene deletion alleles were found in 18% of subjects from West Bengal, 3.9% from Arunachal Pradesh and 3.84% from Assam tribesmen. Coexistence of alpha- and beta-globin gene abnormalities was observed in up to 18% of some tribal groups. The high inbreeding rate and lack of appropriate medical care make these populations particularly vulnerable.
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PMID:Alpha-thalassemia among tribal populations of Eastern India. 1637 Apr 88


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