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sickle cell anaemia

Michael M Dowling, Charles T Quinn, Claudio Ramaciotti, Julie Kanter, Ifeyinwa Osunkwo, Baba Inusa, Rathi Iyer, Janet L Kwiatkowski, Clarissa Johnson, Melissa Rhodes, William Owen, John J Strouse, Julie A Panepinto, Lynne Neumayr, Sharada Sarnaik, Patricia A Plumb, Nomazulu Dlamini, Fenella Kirkham, Linda S Hynan
'Paradoxical' embolization via intracardiac or intrapulmonary right-to-left shunts (RLS) is an established cause of stroke. Hypercoagulable states and increased right heart pressure, which both occur in sickle cell anaemia (SCA), predispose to paradoxical embolization. We hypothesized that children with SCA and overt stroke (SCA + stroke) have an increased prevalence of potential RLS. We performed contrasted transthoracic echocardiograms on 147 children (aged 2-19 years) with SCA + stroke) mean age 12·7 ± 4·8 years, 54·4% male) and a control group without SCA or stroke (n = 123; mean age 12·1 ± 4·9 years, 53·3% male)...
October 21, 2016: British Journal of Haematology
Adedoyin Dosunmu, Akinsegun Akinbami, Ebele Uche, Adewumi Adediran, Sarah John-Olabode
Background. This study sought to identify the pattern of electrocardiographic changes in steady state adult sickle cell anaemia. Methods. A case-control, cross-sectional study was conducted amongst sickle cell patients attending the sickle cell clinic of Lagos State University Teaching Hospital, Ikeja, and HbAA controls. All consenting participants had haemoglobin electrophoresis done and were subjected to electrocardiography (ECG). The descriptive data were given as means ± standard deviation (SD). The differences were considered to be statistically significant when the p value obtained was <0...
2016: Journal of Tropical Medicine
Gabriella E Martyn, Kate G R Quinlan, Merlin Crossley
CCAAT boxes are motifs found within the proximal promoter of many genes, including the human globin genes. The highly conserved nature of CCAAT box motifs within the promoter region of both α-like and β-like globin genes emphasises the functional importance of the CCAAT sequence in globin gene regulation. Mutations within the β-globin CCAAT box result in β-thalassaemia, while mutations within the distal γ-globin CCAAT box cause the Hereditary Persistence of Foetal Haemoglobin, a benign condition which results in continued γ-globin expression during adult life...
October 5, 2016: Biochimica et Biophysica Acta
Wassim Ben Ameur, Sonia Ouerghi, Amira Dridi, Mouna Bousnina, Atef Ben Youssef, Tarek Kilani, Tahar Mestiri
The use of Cardiopulmonary bypass (CPB) and extracorporeal membrane oxygenator (ECMO) in patients suffering from Sickle cell disease (SCD) needs specific precautions. Whereas, no consensual protocols have been established to clarify therapeutic management. CASE REPORT A 7-year-old boy was admitted to the hospital for surgery of advanced endocarditis.  Major dyspnea, hemodynamic distress and fever were noted on physical examination. Biological tests exploring anaemia revealed Haemoglobin (Hb) S levels of 39...
April 2016: La Tunisie Médicale
Udo Ego Anyaehie, Cajetan Uwatoronye Nwadinigwe, Arinze Duke Nwosu, Valentine Ogochukwu Ogbui
INTRODUCTION: A Jehovah's Witness belongs to the religious group that does not accept blood transfusion in any form, while a sickle cell disease patient has abnormal haemoglobins that do not last in circulation predisposing one to anaemia and other systemic complications. Performing a major surgery in a Jehovah's Witness who has sickle cell disease is tasking for a surgeon. CASE PRESENTATION: This case reports a 28-year-old African female with sickle cell disease who outrightly refused any form of blood transfusion as being a Jehovah's Witness and having a complex primary hip that required total hip replacement...
April 2016: Journal of Orthopaedic Case Reports
Patrick Adu, David Larbi Simpong, Godfred Takyi, Richard K D Ephraim
Background. Blood transfusion is a therapeutic procedure usually undertaken in patients with severe anaemia. In Ghana, severe anaemia is mostly due to malaria caused by severe Plasmodium falciparum infection, road traffic accidents, and haemoglobinopathy-induced acute haemolysis. Method. This cross-sectional study evaluated coinheritance of sickle cell haemoglobin variant and G6PD enzymopathy among individuals that donated blood at the Holy Trinity Hospital, Berekum, in the Brong-Ahafo Region, Ghana. Demographic data and other pertinent information were captured using questionnaire...
2016: Advances in Hematology
Elena Cela, Ana G Vélez, Alejandra Aguado, Gabriela Medín, José M Bellón, Cristina Beléndez
BACKGROUND AND OBJECTIVE: Sickle cell anaemia causes progressive organ damage. The objective is to describe school performance of patients with sickle cell anaemia and their clinical parameters and quality of life that may have an influence. The hypothesis is that if school alterations occur without other objective data, additional factors must be present besides the disease itself. PATIENTS AND METHODS: Transversal study performed in November 2015 considering analytical variables, complications and neuroradiological images of children with sickle cell anaemia, and family survey on school performance and quality of life...
September 29, 2016: Medicina Clínica
S Deneuve, L Maire, V Bachelot, M-A Dammacco, P Zrounba, E Delay
Sickle cell anaemia is rare in France but frequent in Africa, leading to rigid, sickle-like shape red blood cells which bind together blocking microcirculation under certain circumstances. The vaso-occlusive crisis is the most frequent clinical manifestation especially in case of homozygous disease. Sickle cells disease is therefore usually considerated as a contraindication to microsurgery, however sometimes, a free flap procedure is mandatory. We here report the case of a 47-year-old man suffering with homozygous sickle cell anaemia and needing an antebrachial free flap procedure for a tongue reconstruction...
September 28, 2016: Annales de Chirurgie Plastique et Esthétique
Abel Makubi, Bruno P Mmbando, Enrico M Novelli, Johnson Lwakatare, Deogratius Soka, Harvest Marik, Kemi Tibarazwa, Mariam Ngaeje, Charles R Newton, Mark T Gladwin, Julie Makani
Data on the magnitude and risk factors for hypertension in sickle cell anaemia (SCA) are limited. A retrospective analysis of individuals with SCA aged ≥15 years enrolled from 2004-2014 at Muhimbili National Hospital, Tanzania was conducted to determine the prevalence, incidence and risk factors for hypertension. A total of 1013 individuals with SCA were analysed, of whom 571(56%) were females. The median age [interquartile range] was 17 [15-22] years. Four hundred and forty-one (44%) of the patients had relative hypertension [systolic blood pressure (SBP) 120-139 mmHg or diastolic blood pressure (DBP) 70-89 mmHg], and 79 (8%) had hypertension (SBP ≥ 140 mmHg or DBP ≥ 90 mmHg)...
September 21, 2016: British Journal of Haematology
Deogratias Munube, Elly Katabira, Grace Ndeezi, Moses Joloba, Samden Lhatoo, Martha Sajatovic, James K Tumwine
BACKGROUND: Stroke is a major complication of sickle cell anaemia (SCA). It occurs commonly in childhood with about 10 % of children with sickle cell anaemia getting affected by this complication. In Uganda, there is paucity of data on the prevalence of stroke in children admitted in a tertiary institution. We determined the prevalence of stroke amongst children with SCA admitted to Mulago National Referral Hospital in Uganda and described the ir co-morbidities. METHODS: We conducted a retrospective record review of children with SCA admitted from August 2012 to August 2014 to the Paediatric Haematology Ward of Mulago Hospital in Kampala, Uganda...
2016: BMC Neurology
Viara Shoumnalieva-Ivanova, Ivan Tanev, Yani Zdravkov, Simeon Monov, Russka Shumnalieva
Aagenaes syndrome, also called lymphoedema cholestasis syndrome 1 (LSC1), is characterized by neonatal intrahepatic cholestasis, often lessening and becoming intermittent with age and severe chronic lymphoedema, mainly affecting the lower extremities. The condition is autosomal recessively inherited, and the gene is located on chromosome 15q. The locus, LCS1, was mapped to a 6.6 cM region on chromosome 15. Angioid streaks are visible irregular crack-like dehiscences in bruch's membrane that are associated with atrophic degeneration of the overlying retinal pigment epithelium...
September 10, 2016: International Ophthalmology
Kerri A Nottage, Russell E Ware, Banu Aygun, Matthew Smeltzer, Guolian Kang, Joseph Moen, Winfred C Wang, Jane S Hankins, Kathleen J Helton
Silent cerebral infarction (SCI) is the most common neurological abnormality among children with sickle cell anaemia (SCA). The effect of hydroxycarbamide (also termed hydroxyurea) on the development and progression of SCI is unclear. We evaluated brain magnetic resonance imaging/angiography (MRI/MRA) in children with SCA receiving long-term hydroxycarbamide therapy. Fifty participants (median 9·4 years, range 1·1-17·3) enrolled in the Hydroxyurea Study of Long-Term Effects (HUSTLE; NCT00305175) underwent brain MRI/MRA and laboratory evaluations before hydroxycarbamide initiation and after 3 and 6 years of treatment to maximum tolerated dose...
October 2016: British Journal of Haematology
Sanjay Tewari, David C Rees, Anke Hannemann, Oluwabukola T Gbotosho, Halima W M Al Balushi, John S Gibson
No abstract text is available yet for this article.
September 1, 2016: Haematologica
Mallika Bokka Sri Satya Naga, Shreya Gour, Nalini Nallagutta, Kranti Kiran Reddy Ealla, Surekha Velidandla, Sangameshwar Manikya
INTRODUCTION: Sickle Cell Anaemia (SCA) is a commonly inherited blood disorder preceded by episodes of pain, chronic haemolytic anaemia and severe infections. The underlying phenomenon which causes this disease is the point mutation in the haemoglobin beta gene (Hbβ) found on chromosome 11 p. Increased oxidative stress leads to DNA damage. DNA damage occurring in such conditions can be studied by the buccal micronucleus cytome assay, which is a minimally invasive method for studying chromosomal instability, cell death and regenerative potential of human buccal tissue...
June 2016: Journal of Clinical and Diagnostic Research: JCDR
B M Warpe, A V Shrikhande, S V Poflee
BACKGROUND: Until now, trimodal distribution of HbS has been seen by six different studies in the world when associated with alpha-thalassemia with confirmation by corresponding alpha-genotyping studies. The RBC indices reduce as alpha-globin genes reduce in sickle cell trait (SCT) patients, which decreases the extent of intra-vascular sickling and thus betters the clinical course of the patients. This is a pioneer study conducted on Central Indian poor population to use the already proven six studies to screen associated alpha-thalassemia in SCT patients thus, circumventing the much costlier alpha-genotyping studies...
2016: Iranian Journal of Pathology
M Joshua Daniel, Prakash H Muddegowda, Chezhiansubash, Jyothi B Lingegowda, Niranjan Gopal, Krishna Prasad
INTRODUCTION: Red Cell Exchange (RCE) is removal of a patient's red blood cells while replacing with donor red blood cells either manually or using automated systems. RCE is beneficial in patients with Sickle Cell Disease (SCD) either during sickling crisis or prior to major surgical procedures to bring down the sickling percentage as high sickling percentage during prolonged anaesthesia may lead to vaso-occlusive crisis. It is also employed in patients infested with malaria and babesiosis where parasitic index remain high despite medical management...
May 2016: Journal of Clinical and Diagnostic Research: JCDR
Mani Mehraei, Rza Bashirov, Şükrü Tüzmen
Recent molecular studies provide important clues into treatment of [Formula: see text]-thalassemia, sickle-cell anaemia and other [Formula: see text]-globin disorders revealing that increased production of fetal hemoglobin, that is normally suppressed in adulthood, can ameliorate the severity of these diseases. In this paper, we present a novel approach for drug prediction for [Formula: see text]-globin disorders. Our approach is centered upon quantitative modeling of interactions in human fetal-to-adult hemoglobin switch network using hybrid functional Petri nets...
June 21, 2016: Journal of Bioinformatics and Computational Biology
Manickam Niraimathi, Rakhee Kar, Sajini Elizabeth Jacob, Debdatta Basu
Vaso-occlusive crisis in sickle cell anaemia is one of the commonest presentations and a leading cause of death. Death can be sudden and unexpected. Herein we present three cases of sickle cell anaemia with sudden death within 3 days of hospitalisation. All the three cases presented with fever and jaundice. Two cases presented consecutively in the same year within a span of 5 months while the other case had presented 2 years prior to these two cases. Infection was the precipitating event in two cases and pregnancy with infection in one...
June 2016: Indian Journal of Hematology & Blood Transfusion
Asral Wirda Ahmad Asnawi, Jameela Sathar, Rashidah Mohamed, Rohayu Deraman, Sri Kumaran, Shahada Sobah Abd Hamid, Muhd Zanapiah Zakaria
Clinical manifestations of sickle cell disease (SCD) arise from the tendency of the sickle haemoglobin to polymerize and deform red blood cells into the characteristic sickle shape. Sickle cell crisis is a devastating complication that may occur in patients with SCD. If not managed properly permanent organ damage and even death may be the final outcome. A case of a 32-year-old Nigerian lady, Gravida 1 Para 0 in her first trimester, with SCD who developed signs and symptoms of delayed haemolytic transfusion reaction after receiving packed red cell transfusion is demonstrated...
June 2016: Indian Journal of Hematology & Blood Transfusion
Sneha Dadheech, D Madhulatha, Suman Jainc, James Joseph, A Jyothy, Anjana Munshi
BACKGROUND & OBJECTIVES: The amount of foetal haemoglobin that persists in adulthood affects the clinical severity of haemoglobinopathies including β-thalassaemia major and sickle cell anaemia (SCA). The present study was undertaken to analyse β-thalassaemia as well as SCA patients for the single nucleotide polymorphism (SNP), rs11886868 (T/C) in BCL11A gene and to evaluate the association between this polymorphism and severity of β-thalassaemia major and SCA. METHODS: a total of 620 samples (420 β-thalassaemia major and 200 SCA cases) were analysed before blood transfusion using basic screening tests like complete blood analysis and osmotic fragility and further confirmed by high performance liquid chromatography (HPLC), amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) and reverse dot blot techniques...
April 2016: Indian Journal of Medical Research
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