scholarly journals IS HEMOGLOBIN E GENE WIDELY SPREAD IN THE STATE OF MADHYA PRADESH IN CENTRAL INDIA? EVIDENCE FROM FIVE TYPICAL FAMILIES

2014 ◽  
Vol 6 (1) ◽  
pp. e2014060 ◽  
Author(s):  
R S Balgir
Keyword(s):  
Sickle Cell ◽  
Clinical Manifestations ◽  
Central India ◽  
Madhya Pradesh ◽  
Red Cell ◽  
Hemoglobin E ◽  
Vulnerable People ◽  
Hb E ◽  
Double Heterozygosity ◽  
First Time

Background: Red cell inherited hemoglobin anomalies are commonly encountered in the central region of India. These cause a public health concern due to high degree of morbidity, mortality, and fetal loss in the backward, underprivileged, and vulnerable people. Purpose: To report five typical families of hemoglobin E disorders identified for the first time in the state of Madhya Pradesh from central India. Methods: Out of a total of 445 couples/families (excluding the present study) with 1526 persons (848 males and 678 females) referred from a tertiary hospital in central India for investigations of anemia/hemoglobinopathies during the period from March 2010 to February 2014, we came across five typical rare couples/families of hemoglobin E disorders worthy of detailed investigations. Laboratory investigations were carried out following the standard procedures after cross checking for quality control from time to time. Results: For the first time, we have encountered nine cases of heterozygous hemoglobin E trait, two members with hemoglobin E-β-thalassemia (double heterozygosity), two cases of sickle cell-hemoglobin E disease (double heterozygosity), and none with homozygous hemoglobin E. Cases  of hemoglobin E trait, hemoglobin E-β-thalassemia, sickle cell-β-thalassemia and sickle cell-E disease showed moderate to severe anemia, and target cells, and reduced values of red cell indices like RBC, Hb level, HCT, MCV, MCH and MCHC, representing abnormal hematological profile and clinical manifestations before blood transfusion. Conclusions: Double heterozygosity for hemoglobinopathies such as occurrence of β-thalassemia mutation with structurally abnormal hemoglobins (Hb S and Hb E) is a rare entity, but occurs with severe clinical manifestations only in those areas or communities where these are highly prevalent, testifying the migrations and genetic admixture. Distribution of hemoglobin E and β-thalassemia in different districts of Madhya Pradesh indicates that abnormal Hb E gene has wide spread and needs prevention for the rehabilitation of vulnerable people in central India. 

scholarly journals Hydroxyurea increases hemoglobin F levels and improves the effectiveness of erythropoiesis in beta-thalassemia/hemoglobin E disease

Blood ◽  
1996 ◽  
Vol 87 (3) ◽  
pp. 887-892 ◽  
Author(s):  
S Fucharoen ◽  
N Siritanaratkul ◽  
P Winichagoon ◽  
J Chowthaworn ◽  
W Siriboon ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Beta Thalassemia ◽  
Limited Information ◽  
Cell Disease ◽  
Hemoglobin F ◽  
Hemoglobin E ◽  
Globin Chains ◽  
Hb E ◽  
Alpha Globin

Hydroxyurea (HU) is one of several agents that have been shown to enhance hemoglobin (Hb) F levels in patients with sickle cell disease and may be useful as a therapy for beta-globinopathies. However, limited information exists on the effects of HU in patients with thalassemia. Accordingly, we examined the hematologic effects of orally administered HU in 13 patients with beta-thalassemia/Hb E, including four patients who had been splenectomized. These patients were treated with escalating doses (final range, 10 to 20 mg/kg/d) for 5 months and were observed in the outpatient hematology clinic every 2 to 4 weeks. Complete blood counts including reticulocyte counts, amounts of Hb E and Hb F, G gamma:A gamma and alpha:non-alpha globin biosynthetic ratios were evaluated before and during treatment. Almost all patients responded with an average increase of 33% in Hb F levels, from a mean (+/- SD) of 42% +/- 11% to 56% +/- 8% (P < .0001), and a reciprocal decline in the percentage of Hb E from 59% +/- 9% to 49% +/- 8% (P < .001). Reticulocytosis was decreased from a mean (+/- SD) of 18.0% +/- 15.6% to 11.7% +/- 9.1% (P < .05); there was also a slight (10%) but statistically significant increase in hemoglobin levels and an improved balance in alpha:non-alpha globin chains ratios. The side effects were minimal in most patients, although these patients tended to tolerate a lower dose of HU before significant myelosuppression than has been our previous experience in sickle cell disease. One splenectomized patient died of sepsis during the trial. We conclude that increased Hb F production in beta-thalassemia/Hb E patients, with an improvement in the alpha:non-alpha globin ratios and, probably, the effectiveness of erythropoiesis, can be achieved using HU. Longer trials of HU in this population, including at other doses and in combination with other agents, appear warranted.

Heat-Shock Protein-70, -27 and Peroxiredoxin-2 Show Chaperone Function in Sickle Red Cells: Evidences from Transgenic Sickle Cell Mouse Model.

Blood ◽  
2007 ◽  
Vol 110 (11) ◽  
pp. 845-845
Author(s):  
Andrea Biondani ◽  
Franco Turrini ◽  
Alessandro Matte’ ◽  
Franco Carta ◽  
Alida Filippini ◽  
...  
Keyword(s):  
Sickle Cell ◽  
Molecular Chaperones ◽  
Cellular Stress ◽  
Membrane Damage ◽  
Membrane Binding ◽  
Clinical Manifestations ◽  
Red Cell ◽  
Membrane Recruitment ◽  
Hydroxyurea Treatment

Abstract Sickle cell disease (SCD) is a worldwide-distributed hereditary red cell (RBCs) disorder characterized by the pathologic hemoglobin-S (HbS). The acute clinical manifestations of SCD are strictly related to HbS polymerization, to generation of dense RBCs, to their interaction with the abnormal activated vascular endothelial cells and to amplified inflammatory response. To identify new biomarkers associated with acute SCD events, we studied the RBCs membrane proteome from human SCD erythrocytes (n=20) fractioned according to density compared to normal RBCs (n=20), we divided RBCs into 2 fractions: fraction 1 (F1) corresponding to the least dense RBCs (density < 1.074) and fraction 2 (F2) corresponding to the densest RBCs (density > 1.095). None of the patients were under hydroxyurea treatment and they did not receive transfusion in the sixmonths before the study. Bi-dimensional electrophoresis (2-DE) followed by MS-analysis of RBCs F1 and F2 from both control and SCD subjects was carried out and 65 proteins differently expressed were identified. We focused on molecular chaperones. In SCD RBCs, we found that the amount of HSP27, HSP70 and Prx-2 recruited to the membrane was higher than in controls, Prx-2 was present as monomers and dimmers that were more abundant in SCD RBCs than in normal controls. Then, we exposed F1 and F2 fractions from normal and SCD patients to in vitro cellular stress (deoxygenation). In sickle RBCs, deoxygenation induced increase membrane recruitment of HSP27 in F1, modulation of HSP70 membrane binding in F2; reduction of Prx-2 monomers with increase Prx-2 dimerization in F1, but slightly changes in Prx-2 monomers in F2. These data suggest that in SCD RBCs HSP-27, -70 and Prx-2 are recruited to the membrane in response to cellular stress, acting as molecular chaperones to assist proteins in regaining their functional conformation. In order to evaluate their role in vivo and because increase serum levels of HSP70 has been recently reported in few SCD patients, we used transgenic sickle cell SAD mice as a model for SCD and exposed to hypoxia (8%-O2) respectively for 2–12–48 hours, mimicking acute human SCD vaso-occlusive-crisis (VOCs). We studies SAD mice and wild-type mice (C57/B6, WT) divided into groups of 6 animals each. We evaluated HSP70, HSP27 and Prx-2 expression on RBCs membrane, hematological parameters, RBCs density, and cation content. We found that HSP70 and HSP27 bound to RBCs membrane respectively after 12 hours and 48 hours (hrs) of hypoxia, while Prx-2 membrane binding was modulated during hypoxia. At the different time schedule, we observed a marked reduction in red cell K+ at 12 and 48 hrs hypoxia, associated with significant increase of the dense RBCs at 48 hrs hypoxia. Our data indicate that in SCD, HSP70, HSP27 and Prx-2 membrane recruitment is modulated in vivo during acute VOCs, supporting their novel role as RBCs membrane protein protectors and as new markers of severity of RBCs membrane damage during acute sickle VOCs.

ABO Blood Groups and Sickle-cell Trait Investigations in Madhya Pradesh Indore District (Central India)

1966 ◽  
Vol 15 (4) ◽  
pp. 404-408 ◽  
Author(s):  
Narendra Kumar
Keyword(s):  
Sickle Cell ◽  
Sickle Cell Trait ◽  
Central India ◽  
Blood Groups ◽  
Madhya Pradesh ◽  
Abo Blood Groups ◽  
Blood Samples ◽  
Mixed Sample ◽  
Pooled Data

SummaryBlood samples from five hundred and ninety five individuals belonging to Indore district of west Madhya Pradesh were tested for ABO blood groups, and two hundred and ninety three of them were tested for the sickle-cell trait.The investigated groups include: the Kadve Kulmi, the Khati, the Rami Mali, the Balai, the Bhil and a mixed sample of various castes. The aforesaid groups, within the district, are found to be homogeneous, as far as the ABO blood groups distributions are concerned. Frequencies for the O, A and B genes have been found to be 0.5251, 0.1587 and 0.3162, respectively, in the pooled data.Sickle-cell trait has been detected in the Balai, the Charmakar or Chamar and the Bhil.

scholarly journals Sickle cell disease in Madhya Pradesh, Central India: A comparison of clinical profile of sickle cell homozygote vs. sickle-beta thalassaemia individuals

Hematology ◽  
2016 ◽  
Vol 21 (9) ◽  
pp. 558-563 ◽  
Author(s):  
Rajiv Yadav ◽  
Monica Lazarus ◽  
Pawan Ghanghoria ◽  
MPSS Singh ◽  
Rasik Behari Gupta ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Central India ◽  
Madhya Pradesh ◽  
Clinical Profile ◽  
Cell Disease ◽  
Beta Thalassaemia

scholarly journals Prevalence of hemolytic anemia and hemoglobinopathies among the pregnant women attending a tertiary hospital in central India

2015 ◽  
Vol 5 (1) ◽  
Author(s):  
Ranbir S. Balgir
Keyword(s):  
Health Care ◽  
Pregnant Women ◽  
Sickle Cell ◽  
Central India ◽  
The Body ◽  
Fetal Mortality ◽  
Mean Corpuscular Hemoglobin ◽  
Hemoglobin E ◽  
Hematological Indices ◽  
Sickle Cell Disorders

<p>Anemia in pregnancy is one of the causes of maternal morbidity and, maternal and fetal mortality in India. Hemoglobin transports oxygen to different parts of the body. Any defect in hemoglobin structure leads to its adverse functions. Screening of pregnant women for hemoglobinopahties helps in early intervention for reducing morbidity and mortality. Although the prevalence of hemoglobinopathies especially of the sickle cell disorders is high in Madhya Pradesh but any study on pregnant women is lacking. This study had set the objectives to find the prevalence of anemia and hemoglobin disorders in pregnant women, and to determine the health status through hematological indices profile in central India. Hospital based a cross-sectional study showed 12.26% prevalence of hemoglobinopathies among 416 pregnant women, the sickle cell trait being 7.45%, followed by β-thalassemia trait (2.89%), hemoglobin E trait (0.24%), and sickle cell disease (1.68%). About 88% of the pregnant women were found free of hemoglobinopathies. Of the 9.13% pregnant women included in the study were suffering from sickle cell disorders. However, the overall 47.11% anemia was observed in pregnant women, ranging in between 45% to 66% and seemed to show a reduction in anemia after nutritional supplementations and improvement in maternal health care at antenatal check up due to accessibility to medical health facilities. A comparison of hematological indices of pregnant women afflicted with and without sickle cell disorders have revealed much reduced hemoglobin level, red blood cells count, mean corpuscular volume, hematocrit, and mean corpuscular hemoglobin; and raised leucocytosis in sickle cell disorder cases than among the normal pregnant women. A more vigorous and realistic campaign of prophylactic regime of supplementations for these pregnant women and child health care is suggested.</p><p> </p><p>妊娠期贫血是印度产妇母体发病率以及母婴死亡率的原因之一。 血红蛋白将氧输送到身体的不同部位。 血红蛋白结构的任何缺陷都导致其功能不良。 孕妇的血红蛋白病筛查有助于早期干预，降低发病率和死亡率。 虽然血红蛋白病特别是镰状细胞病的患病率在中央邦较高，但对孕妇的任何研究都很缺乏。 本研究将目标设为找出孕妇贫血和血红蛋白病患病率，并通过印度中部的血液指标情况来确定健康状况。 医院基于一项横断面研究显示了416名孕妇中12.26%的血红蛋白病患病率，镰状细胞特征为7.45%，接下来是β地中海贫血特征（2.89%）、血红蛋白E特征（0.24%）和镰状细胞病（1.68%）。 约88%的孕妇被发现未患血红蛋白病。 纳入研究的孕妇有9.13%患有镰状细胞病。 然而，在孕妇中观察到总体47.11%的贫血，范围从45%到66%之间，在营养补充以及由于医疗卫生设施可及性原因在产前检查时孕妇健康护理改善后，看来显示出贫血的减少。 对患有或未患镰状细胞病的孕妇血液学指数的比较揭示出，镰状细胞症病的病例与正常孕妇相比血红蛋白水平、红细胞计数、平均红细胞容积、血细胞比容和平均红细胞血红蛋白有很大降低，以及有白细胞的增多。 建议对于这些孕妇和儿童的卫生护理的预防性补充方案采取更积极并且更切实际的活动。</p>

scholarly journals Protective Resistance by Human G6PD Enzyme Deficiency and Hemoglobin Variants Against Malaria and Natural Selection: Further Evidence from Review of New Studies

2019 ◽  
pp. 44-52
Author(s):  
Balgir ranbir
Keyword(s):  
Natural Selection ◽  
Sickle Cell ◽  
Vulnerable Populations ◽  
High Frequency ◽  
G6pd Deficiency ◽  
Sickle Cell Trait ◽  
Central India ◽  
Enzyme Deficiency ◽  
Human Populations ◽  
Red Cell

Main objective of this article is to review and evaluate recent red cell variant studies for protection against malaria and natural selection. Malaria is a parasitic disease highly widespread in tropical and subtropical regions of the world. It is also one of the leading causes of death worldwide and genes involved in malaria resistance are the most important for natural selection in human populations. Multiple red cell variants, which evolved probably to counter the lethal effects of malaria and confer protection against malaria through different mechanisms, show high frequencies in malaria endemic vulnerable populations. Different natural protective/resistance mechanisms including hampering of parasite growth, invasion related immunological responses or rapidly elimination of malaria parasite from the infected erythrocytes of host have briefly been discussed, evaluated, and reviewed. Conclusions drawn have been projected here. High frequency of inherited hemoglobin disorders including thalassemias, and red cell G6PD enzyme deficiency, which seemed to evolve simultaneously in relation to malaria, and high mortality caused by Plasmodium falciparum malaria in different vulnerable populations of tropical and subtropical parts of world, confirm that the natural selection is certainly operating against malaria in one way or another; and human population genetics have distinctly played a significant role in the co-evolution of host and malaria. The inverse relationship between sickle cell trait and G6PD deficiency and vice versa, revealed by allele frequencies distribution shown in our previous studies, is a testimony of disequilibrium, as sickle cell allele being replaced by G6PD deficiency allele in populations of central India. Positive natural selection plays a definite role against malaria for maintaining balance in high frequency endemic populations.

scholarly journals A cross-sectional study at tertiary care center in Assam

2021 ◽  
Vol 0 ◽  
pp. 1-4
Author(s):  
Uttam Kumar Mondal ◽  
Pritikar Dowerah ◽  
Ranajit Mukherjee
Keyword(s):  
Sickle Cell ◽  
Sickle Cell Trait ◽  
Care Center ◽  
Tertiary Care ◽  
Clinical Manifestations ◽  
Definitive Treatment ◽  
Beta Thalassemia ◽  
Target Cells ◽  
Hemoglobin E ◽  
Chronic Anemia

Objectives: The objectives of the study were to find out the prevalence, epidemiology, and clinicohematological profile of hemoglobinopathies. Material and Methods: During the period of September 2010–August 2011, an observational study was done in the Department of Pediatrics, Assam Medical College and Hospital, Dibrugarh. Children (<12 years) suffering from chronic anemia were the study population. Results: Hemoglobinopathies were noted in 72 (35.0%) out of 206 chronic anemia cases, of which sickle cell disease (SCD) was found in 23 cases (11.2%), beta-thalassemia major (BTM) in 21 cases (10.2%), hemoglobin E (HbE)-β thalassemia in 12 cases (5.8%), HbE disease was seen in 10 cases (4.8%), and HbE trait and sickle cell trait (SCT) in 3 cases each. Overall hemoglobinopathy was most commonly seen among teagarden community in Assam. Clinical presentation ranged from completely asymptomatic to congestive heart failure. In majority cases, decreased mean Hb (%) and mean corpuscular volume were found. Anisopoikilocytosis, reticulocytosis, and target cells were frequently noted in peripheral blood smear. Conclusion: Chronic anemia cases should be screened for hemoglobinopathies as these genetic disorders are commonly seen in Assam. SCD and BTM are the major types of hemoglobinopathies. Heterozygous hemoglobinopathies (HbE trait and SCT) had lesser clinical manifestations. As the definitive treatment of hemoglobinopathies is still difficult to avail in this region, genetic counseling should be considered for hemoglobinopathy patients and their families as well, to prevent new cases.

Red cell enzyme and other polymorphic systems in Madhya Pradesh, Central India

1974 ◽  
Vol 1 (2) ◽  
pp. 159-174 ◽  
Author(s):  
D.F. Roberts ◽  
S.S. Papiha ◽  
C.K. Creen ◽  
B.C. Chhaparwal ◽  
S. Mehta
Keyword(s):  
Central India ◽  
Madhya Pradesh ◽  
Red Cell ◽  
Cell Enzyme
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