scholarly journals The study of the incidence of pregnant women with sickle cell disease

2019 ◽  
Vol 8 (10) ◽  
pp. 3950
Author(s):  
Jyoti Lagoo ◽  
Arpita Lagoo
Keyword(s):  
Sickle Cell Disease ◽  
Pregnant Women ◽  
Sickle Cell ◽  
Globin Gene ◽  
Public Health Problem ◽  
High Morbidity ◽  
Major Public Health Problem ◽  
Age Group ◽  
Cell Disease ◽  
Inherited Disorders

Background: The sickle cell disease is major public health problem which causes high morbidity and mortality in India. It is observed that SCD is scourge in Chhattisgarh since long past. Sickle cell disease is a term for a group of genetically inherited disorders characterized by production of abnormal hemoglobin. “Hemoglobin-S” results from a point mutation in the beta globin gene. The main objective is to study the incidence of pregnant women with sickle cell disease.Methods: It is a hospital based prospective study. It was conducted at Obstetrics and Gynecology department of LTBRKM Govt. Medical College, Jagdalpur, Chhattisgarh. The study was carried out from August 2014 to October 2015. The study included screening of all patients attending antenatal clinic and in labour ward during emergency. 75 cases were found to be sickling positive. Permission from Institutional Ethics Committee was obtained.Results: The incidence of SCD in India is 44%, in Chhattisgarh is 17%.At our institute in pregnant women is 1.75%. The incidence of HbAs group was 70.66% and HbSS was 26.66%. In Hb AS group maximum 47% patients were in age group of 26-30 years. and also in same age group the incidence of HbSS group was 60%. In age group of 31-35 years. 22% of patients were of HbAS group, but only 10% of patients were of HbSS group. HbAS group and HbSS group the percentage of primi gravida were 49% and 60% respectively. It is noted that in HbAS group only 3% of patients had parity >4, but in HbSS group it was 10%.Conclusions: In conclusion, it has been shown that the clinical statuses of the most sickle cell diseases patience were not seriously affected by pregnancy if they are given appropriate prenatal care. All pregnant women should be screened for sickle sell hemoglobinopathy in endemic region, like in our state Chhattisgarh.

scholarly journals Evaluation of the Clinical Efficiency of an Antisickling Polyherbal Formula Drepanoalpha in a Sickle cell disease Patient in Gbado-Lite City (Democratic Republic of the Congo) by Quantum Magnetic Resonance Analyzer

2019 ◽  
Vol 1 (1) ◽  
pp. 36-48
Author(s):  
Benjamin Gbolo Zoawe ◽  
Koto-te-Nyiwa Ngbolua ◽  
Pius T. Mpiana ◽  
Ndanga Bikibo Appolinaire ◽  
Pangodi Aundagba Jean-Marie ◽  
...  
Keyword(s):  
Magnetic Resonance ◽  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Disease Patient ◽  
Public Health Problem ◽  
The Body ◽  
Sickle Cell Disease Patient ◽  
Major Public Health Problem ◽  
Cell Disease ◽  
Vital Functions

Sickle cell disease is a genetic disease linked to the presence of hemoglobin S in the blood and is a major public health problem in Africa. The drugs available are expensive in view of the purchasing power of the majority of the population. The aim of this study was to assess the clinical efficacy of an improved traditional medicine called Drepanoalpha (an anti-sickle cell polyherbal formula) in a homozygous sickle patient using the quantum magnetic resonance analyzer. The results show the relevance of the use of this unconventional technical approach in the sickle cell disease patient treatment evaluation. Indeed, this study showed that Drepanoalpha is effective in vivo and restored homeostatic balance by optimizing some vital functions in the treated patient. The quantum magnetic resonance analyzer is therefore an important away which allows understanding the disorders of the body due to sickle cell disease and their correction post-treatment. It is desirable that the use of this device be validated in the evaluation of the effectiveness of anti-sickling drugs in large-scale clinical trials in rural areas like Nord-Ubangi province. Indeed, this instrument is not only fast, practical, economical, accessible, non-invasive but also easy to use and suitable for this category of research in underprivileged areas. The results obtained are in perfect agreement with the facts observed (recovery of some vital parameters and disappearance of seizures in the patient).

Study of Two Subjects with Absence of Severe Anemia with Homozygous β0 Thalassemia Due to Disrupted γ-to-β Switch

Blood ◽  
2010 ◽  
Vol 116 (21) ◽  
pp. 5172-5172
Author(s):  
Donghoon Yoon ◽  
Soo Jin Kim ◽  
Kimberly Hickman ◽  
Dottie Hussey ◽  
Josef T. Prchal
Keyword(s):  
Cell Proliferation ◽  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Globin Gene ◽  
Control Group ◽  
Cell Disease ◽  
Inherited Disorders ◽  
Mild Anemia ◽  
Cooley's Anemia

Abstract Abstract 5172 Sickle cell disease (SCD) and β thalassemia due to defects of the HBB (β globin gene) are among the most common inherited genetic disorders. At birth, there is a switch of γ globin transcription to β and d, with replacement of HbF by HbA and HbA2 virtually completed by six months of age. At that time, serious inherited disorders of the β gene, such as sickle cell disease and Cooley's anemia (homozygosity for β0 thalassemia mutations), become clinically apparent. Cooley's anemia is a life-threatening disorder wherein, in most patients, chronic transfusions or bone marrow transplantations are needed to sustain life. Rare patients with homozygosity or compound heterozygosity for β0 have no or only mild anemia. These patients maintain a high level of γ globin synthesis, apparently from a disrupted γ-to-β switch, thus attenuating their disease state. Recent work has demonstrated that BCL11A plays an important role in the suppression of γ-globin expression, as do polymorphisms of the gene that remain to be fully elucidated at a functional level. We recruited two unrelated subjects with homozygous β0 thalassemia mutations with no or only mild anemia (Patient #1, IVS2+1 G>A; Hb 14.2 Gm%; 97.2% HbF, 2.8% HbA2, Patient #2, IVS 2 G-T; Hb 11.2 Gm%; 92/5% HbF, 6.8% HbA2, 0.7% HbA). We sequenced transcripts and genomic loci of BCL11A from these patients. No mutations or splicing variants on transcripts were found. However, when the ≂f102 kb of genomic material from patient #1 was sequenced, 5 single nucleotide changes at intron II were found (2 known and 3 previously unpublished), while no genomic changes were found in patient #2. We then performed in vitro erythroid expansion from peripheral blood utilizing high erythropoietin concentrations and analyzed the cell proliferation and expression of globin and BCL11A genes. Interestingly, detectable amounts of β-globin transcripts were present in both patients during expansion, although protein levels were not detectable by the conventional HPLC method, probably due to limited sensitivity of this assay. Patient #1 showed mild in vitro induction of β-globin expression, which is lower than the control group, but no apparent cell proliferation. Patient #2 showed no induction of β-globin expression and hyperproliferation at a later stage of expansion (See Figure); however, the levels of BCL11A and γ-globin transcripts were indistinguishable from controls. Although we were unable to detect any abnormality of the BCL11A transcript as a cause of high fetal hemoglobin expression in these patients, we cannot rule out the possibility that the intronic mutations in patient #1 may interfere with BCL11A gene translation, perhaps by interference with non-coding RNA. The potential molecular mechanism of γ-to-β switch is being explored by gene expression profiling and microRNA analyses. Disclosures: No relevant conflicts of interest to declare.

scholarly journals Newborn Screening for Sickle Cell Disease: Indian Experience

2018 ◽  
Vol 4 (4) ◽  
pp. 31 ◽  
Author(s):  
Roshan Colah ◽  
Pallavi Mehta ◽  
Malay Mukherjee
Keyword(s):  
Sickle Cell Disease ◽  
Newborn Screening ◽  
Sickle Cell ◽  
Screening Program ◽  
Clinical Manifestations ◽  
Public Health Problem ◽  
Major Public Health Problem ◽  
Cell Disease ◽  
Screening Programs

Sickle cell disease (SCD) is a major public health problem in India with the highest prevalence amongst the tribal and some non-tribal ethnic groups. The clinical manifestations are extremely variable ranging from a severe to mild or asymptomatic condition. Early diagnosis and providing care is critical in SCD because of the possibility of lethal complications in early infancy in pre-symptomatic children. Since 2010, neonatal screening programs for SCD have been initiated in a few states of India. A total of 18,003 babies have been screened by automated HPLC using either cord blood samples or heel prick dried blood spots and 2944 and 300 babies were diagnosed as sickle cell carriers and SCD respectively. A follow up of the SCD babies showed considerable variation in the clinical presentation in different population groups, the disease being more severe among non-tribal babies. Around 30% of babies developed serious complications within the first 2 to 2.6 years of life. These pilot studies have demonstrated the feasibility of undertaking newborn screening programs for SCD even in rural areas. A longer follow up of these babies is required and it is important to establish a national newborn screening program for SCD in all of the states where the frequency of the sickle cell gene is very high followed by the development of comprehensive care centers along with counselling and treatment facilities. This comprehensive data will ultimately help us to understand the natural history of SCD in India and also help the Government to formulate strategies for the management and prevention of sickle cell disease in India.

scholarly journals Quality control and standardization of FACA® syrup

2018 ◽  
Vol 9 (4) ◽  
pp. 101
Author(s):  
Salfo Ouedraogo ◽  
Sidiki Traoré ◽  
Jean Claude W. Ouédraogo ◽  
Moumouni Koala ◽  
Lazare Belemnaba ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Public Health Problem ◽  
World Health ◽  
Calotropis Procera ◽  
Major Public Health Problem ◽  
Cell Disease ◽  
European Pharmacopoeia ◽  
Powder Preparation ◽  
The World

<p>Sickle cell disease is a major public health problem. It is the first genetic disease in the world. FACA syrup offers an alternative treatment. It is a dry powder preparation of two components, the roots barks of <em>Zanthoxylum zanthoxyloides</em> Lam. (Rutaceae) Zepernick, Timler and <em>Calotropis procera</em>. Ait. R.B.r. (Asclepiadaceae). The product was developed at Institute for Research in Health Sciences (IRSS) from a traditional recipe used in Burkina Faso for treatment of sickle cell crises. This study aimed to establish physical-chemical, pharmaco technical and microbiological control parameters essential for the standardization of the phytomedicine. This valuation concerned specifications of moisture content, pH, the fingerprint by thin layer chromatography, pesticide residues, heavy metal content, microbial quality, and total ash. These charcteristics were determined by the methods prescribed by the World Health Organization (1998) and the European Pharmacopoeia 6th edition. The results have shown that dry syrups and reconstituted syrups were sweet, slightly spicy with a bitter after taste, a white room color and a faint odor. The density at the preparation was 0.985 and the pH was 5.93. After 2 months of storage in the laboratory, the organoleptic parameters of the reconstituted syrups have not changed. They were mold free, the density remained around 1 and the pH between 5 and 4. These parameters have shown that the quality of plants powders and these medicine comply with the recommendations of the European pharmacopoeia. Faca syrup may contribute to the better management of sickle cell disease in children.</p>

scholarly journals Development of Gene Editing Strategies for Human β-Globin (HBB) Gene Mutations

2020 ◽  
Author(s):  
Batuhan Mert Kalkan ◽  
Ezgi Yagmur Kala ◽  
Melek Yuce ◽  
Medine Karadag Alpaslan ◽  
Fatih Kocabas
Keyword(s):  
Sickle Cell Disease ◽  
Genome Editing ◽  
Sickle Cell ◽  
Gene Editing ◽  
Globin Gene ◽  
List Type ◽  
Cell Disease ◽  
Recognition Sequence ◽  
Inherited Disorders ◽  
Target Dna

AbstractRecent developments in gene editing technology have enabled scientists to modify DNA sequence by using engineered endonucleases. These gene editing tools are promising candidates for clinical applications, especially for treatment of inherited disorders like sickle cell disease (SCD). SCD is caused by a point mutation in human β-globin gene (HBB). Clinical strategies have demonstrated substantial success, however there is not any permanent cure for SCD available. CRISPR/Cas9 platform uses a single endonuclease and a single guide RNA (gRNA) to induce sequence-specific DNA double strand break (DSB). When this accompanies a repair template, it allows repairing the mutated gene. In this study, it was aimed to target HBB gene via CRISPR/Cas9 genome editing tool to introduce nucleotide alterations for efficient genome editing and correction of point mutations causing SCD in human cell line, by Homology Directed Repair (HDR). We have achieved to induce target specific nucleotide changes on HBB gene in the locus of mutation causing SCD. The effect of on-target activity of bone fide standard gRNA and newly developed longer gRNA were examined. It is observed that longer gRNA has higher affinity to target DNA while having the same performance for targeting and Cas9 induced DSBs. HDR mechanism was triggered by co-delivery of donor DNA repair templates in circular plasmid form. In conclusion, we have suggested methodological pipeline for efficient targeting with higher affinity to target DNA and generating desired modifications on HBB gene. Graphical abstractHighlightsHBB gene were targeted by spCas9 in close proximity to the SCD mutationLong gRNA, which is designed to target SCD mutation, is sickle cell disease specific and exhibits indistinguishable level of cleavage activity on target locus.Functional HBB HDR repair templates with 1 Kb and 2 Kb size were generated to cover all known mutations in the HBB gene.Replacement of PAM sequence in HDR template with HindIII recognition sequence allowed a quick assessment of the HDR efficiency.HDR template: Cas9-GFP vector 2:1 ratio yielded the highest HDR events/GFP+ cells.

scholarly journals Burden of Sickle Cell Disease in Ghana: The Korle-Bu Experience

2018 ◽  
Vol 2018 ◽  
pp. 1-5 ◽  
Author(s):  
Eugenia V. Asare ◽  
Ivor Wilson ◽  
Amma A. Benneh-Akwasi Kuma ◽  
Yvonne Dei-Adomakoh ◽  
Fredericka Sey ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Early Recognition ◽  
Public Health Problem ◽  
Urgent Care ◽  
Clinical Genetics ◽  
Major Public Health Problem ◽  
Cell Disease ◽  
Number Of Patients ◽  
Clinic Visits

In Africa, sickle cell disease (SCD) is a major public health problem with over 200,000 babies born per year. In Ghana, approximately 15,000 (2%) of Ghanaian newborns are diagnosed with SCD annually. A retrospective review of medical records of all SCD patients aged 13 years and above, who presented to the sickle cell clinic at Ghana Institute of Clinical Genetics (GICG), Korle-Bu, from 1st January 2013 to 31st December 2014, was carried out, using a data abstraction instrument to document their phenotypes, demographics, attendance/clinic visits, pattern of attendance, and common complications seen. During the period under review 5,451 patients were seen at the GICG, with 20,788 clinic visits. The phenotypes were HbSS (55.7%) and HbSC (39.6%) with other sickle cell phenotypes (4.7%). Out of the 20,788 clinic visits, outpatient visits were 15,802 (76%), and urgent care visits were 4,986 (24%), out of which 128 (2.6%) patients were admitted to the Teaching Hospital for further management of their acute complications. There were 904 patient referrals (out of 5,451 patients) for specialist care; the 3 specialties that had the most referrals were Obstetrics and Gynaecology (168 patients), Orthopaedics (150 patients), and Ophthalmology (143 patients). In 2014, complications seen at KBTH included 53 patients with avascular necrosis (AVN) and 61 patients with chronic leg ulcers. Our centre has a large number of patients living with sickle cell disease. From our experience, early recognition and referral of sickle cell related complications can reduce morbidity and mortality associated with this disease. A multidisciplinary approach to care of SCD patients is therefore important.

scholarly journals Acute and Subacute Oral Toxicity Studies and Anti-Sickling Activity Assessment of FACA® Syrup

2020 ◽  
Vol 10 (5-s) ◽  
pp. 40-50
Author(s):  
Geoffroy Gueswindé OUEDRAOGO ◽  
Sylvain ILBOUDO ◽  
Salfo OUEDRAOGO ◽  
Jean Claude Romaric Pingdwendé OUEDRAOGO ◽  
Gaëtan Donzéo SOMDA ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Behavioral Change ◽  
Public Health Problem ◽  
Toxicity Tests ◽  
Major Public Health Problem ◽  
Cell Disease ◽  
Oral Toxicity ◽  
Activity Assessment

Sickle cell disease remains a major public health problem in Burkina Faso and Africa. For the management of this pathology in young children, the Institute for Research in Health Sciences has developed an herbal drug called FACA® syrup. The objective of this study was to verify the safety and pharmacological efficacy of this formulation for its use in the management of sickle cell disease. Acute and subacute oral toxicity tests were performed on Wistar rats in accordance with Organization for Economic Cooperation and Development test guidelines and anti-sickling activity of FACA® syrup was evaluated according to the Emmel test. In the acute test, FACA® syrup didn’t cause mortality or any behavioral change at dose of 2000 mg/kg/b.w suggesting that the test product estimated LD50 is 5000 mg/kg b.w. The results of subacute toxicity study indicate that the daily administration of FACA® syrup during 28 days did not result in significant change on physical, haematological and biochemical parameters up to dose of 1000 mg/kg b.w. The evaluation of effect of FACA® syrup in vitro on sickling revealed that, FACA® syrup possesses a real antisickling activity. Regarding these results FACA® syrup would be considered as safe in both acute and subacute exposure and could be used in the management of sickle cell diseases. Keywords: FACA® syrup, oral toxicity, sickle cell anemia, Antisickling activity

O945 Maternal morbidity in pregnant women with sickle cell disease

2009 ◽  
Vol 107 ◽  
pp. S362-S362
Author(s):  
K. Tosta ◽  
R. Nomura ◽  
A. Igai ◽  
G. Fonseca ◽  
S. Gualandro ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Pregnant Women ◽  
Sickle Cell ◽  
Maternal Morbidity ◽  
Cell Disease

Rapid and reliable β-globin gene cluster haplotyping of sickle cell disease patients by FRET Light Cycler and HRM assays

2011 ◽  
Vol 412 (13-14) ◽  
pp. 1257-1261 ◽  
Author(s):  
Philippe Joly ◽  
Philippe Lacan ◽  
Caroline Garcia ◽  
Angelique Delasaux ◽  
Alain Francina
Keyword(s):  
Sickle Cell Disease ◽  
Gene Cluster ◽  
Sickle Cell ◽  
Globin Gene ◽  
Cell Disease ◽  
Globin Gene Cluster ◽  
Light Cycler

scholarly journals 3,3′,5-Triiodothyroacetic acid (TRIAC) induces embryonic ζ-globin expression via thyroid hormone receptor α

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Huiqiao Chen ◽  
Zixuan Wang ◽  
Shanhe Yu ◽  
Xiao Han ◽  
Yun Deng ◽  
...  
Keyword(s):  
Thyroid Hormone ◽  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Hormone Receptor ◽  
Thyroid Hormone Receptor ◽  
Globin Gene ◽  
Erythroid Cells ◽  
Cell Disease ◽  
Potent Inducer ◽  
Thyroid Hormone Receptor Α

AbstractThe human ζ-globin gene (HBZ) is transcribed in primitive erythroid cells only during the embryonic stages of development. Reactivation of this embryonic globin synthesis would likely alleviate symptoms both in α-thalassemia and sickle-cell disease. However, the molecular mechanisms controlling ζ-globin expression have remained largely undefined. Moreover, the pharmacologic agent capable of inducing ζ-globin production is currently unavailable. Here, we show that TRIAC, a bioactive thyroid hormone metabolite, significantly induced ζ-globin gene expression during zebrafish embryogenesis. The induction of ζ-globin expression by TRIAC was also observed in human K562 erythroleukemia cell line and primary erythroid cells. Thyroid hormone receptor α (THRA) deficiency abolished the ζ-globin-inducing effect of TRIAC. Furthermore, THRA could directly bind to the distal enhancer regulatory element to regulate ζ-globin expression. Our study provides the first evidence that TRIAC acts as a potent inducer of ζ-globin expression, which might serve as a new potential therapeutic option for patients with severe α-thalassemia or sickle-cell disease.

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