نتایج جستجو برای: homozygous sickle cell disease

تعداد نتایج: 2943221  

2017
Sarah Feray Pierre Mora Maxens Decavele Tài Pham El Mahdi Hafiani Muriel Fartoukh

Plastic bronchitis is used to designate endobronchial plugs of rubber-like consistency that form into bronchial trees. It has been described in several diseases like asthma, cystic fibrosis, pulmonary infection, cyanotic congenital heart disease and in few young children with homozygous sickle cell disease. We report the first sickle cell adult case of plastic bronchitis during acute chest synd...

Journal: :Archives of disease in childhood 1989
D K Webb J S Darby D T Dunn S I Terry G R Serjeant

Gall stones were detected by ultrasonography in 30 of 226 (13%) children with homozygous sickle cell disease aged 5-13 years participating in a cohort study from birth. Children with gall stones had significantly lower total haemoglobin and fetal haemoglobin and higher bilirubin concentrations, but further analysis showed that the apparent effects of haemoglobin and fetal haemoglobin concentrat...

Journal: :The British journal of ophthalmology 1976
P I Condon G R Serjeant

The ocular fingings in 60 patients with homozygous sickle-cell disease over the age of 40 years have been described. Peripheral retinal vessel disease was common and appeared to increase with age. Retinitis proliferans was common among older patients in the group. Angioid streaks occurred in 13 (22 per cent) patients.

2017
Hanadi Rafii Françoise Bernaudin Helene Rouard Valérie Vanneaux Annalisa Ruggeri Marina Cavazzana Valerie Gauthereau Aurélie Stanislas Malika Benkerrou Mariane De Montalembert Christele Ferry Robert Girot Cecile Arnaud Annie Kamdem Joelle Gour Claudine Touboul Audrey Cras Mathieu Kuentz Claire Rieux Fernanda Volt Barbara Cappelli Karina T. Maio Annalisa Paviglianiti Chantal Kenzey Jerome Larghero Eliane Gluckman

Efforts to implement family cord blood banking have been developed in the past decades for siblings requiring stem cell transplantation for conditions such as sickle cell disease. However, public banks are faced with challenging decisions about the units to be stored, discarded, or used for other endeavors. We report here 20 years of experience in family cord blood banking for sickle cell disea...

2014
Enrico M. Novelli Mariana Hildesheim Caterina Rosano Rebecca Vanderpool Marc Simon Gregory J. Kato Mark T. Gladwin

A seeming paradox of sickle cell disease is that patients do not suffer from a high prevalence of systemic hypertension in spite of endothelial dysfunction, chronic inflammation and vasculopathy. However, some patients do develop systolic hypertension and increased pulse pressure, an increasingly recognized major cardiovascular risk factor in other populations. Hence, we hypothesized that pulse...

Journal: :Archives of disease in childhood 1991
A Nouri M de Montalembert Y Revillon R Girot

Partial splenectomy was carried out in four children with homozygous sickle cell disease and eight children with sickle cell beta thalassaemia. It was performed in order to preserve splenic contribution to the host defence against infections while suppressing hypersplenism or the risk of recurrence of acute splenic sequestration. Indications for this surgical operation were acute splenic seques...

A. Merat, A. Vaisi-Raygani M. Haghshenass M. Rezaei Zohreh Rahimi,

Background: Molecular genetic factors regulating hemoglobin F (Hb F) expression are important modifiers of the severity of sickle cell anemia (SS). Methods: The prevalence of XmnI polymorphic site, the Gg:Ag ratio and the Hb F level were determined using PCR-RFLP procedure, HPLC and alkaline denaturation method, respectively, in various haplotypes of 52 patients with SS, 18 patients with sickle...

Journal: :Journal of the American Society of Nephrology : JASN 2016
Mei Lin Z Bissonnette Kammi J Henriksen Kristie Delaney Nicole Stankus Anthony Chang

Sickle cell nephropathy is a common complication in patients with sickle cell hemoglobinopathies. In these disorders, polymerization of mutated hemoglobin S results in deformation of red blood cells, which can cause endothelial cell injury in the kidney that may lead to thrombus formation when severe or manifest by multilayering of the basement membranes (glomerular and/or peritubular capillari...

2002
Roland B. Scott Peter Gillette Juan C. Vera

The acute chest syndrome (ACS), a pneumonia-like illness in sickle cell patients, is one of the most frequent causes of their morbidity and hospitalizations. Repeated ACS events may predict the development of chronic lung disease. ACS is reported as a frequent cause of death in these patients. We examine here the incidence and risk factors of ACS in 3,751 patients with sickle cell disease who w...

Journal: :Journal of laboratory physicians 2023

Abstract Background Fetal hemoglobin (HbF) levels play significant role in lowering down the morbidity and mortality sickle cell disease (SCD) patients. Coinheritance of heme oxygenase-1 (HMOX1) rs2071746:A > T polymorphism may contribute to variable HbF Indian SCD Aim Objective This study was aimed evaluate HMOX1 its impact on level Materials Methods One-hundred twenty confirmed cases 50 he...

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