Clinical and laboratory repercussions in patient with hemoglobin SD-Punjab disease: a case report

We report the first case of hemoglobin SD-Punjab disease, a rare form of sickle-cell disease, in the state of Bahia. Detection was possible by a test for the identification of hemoglobin (Hb) variants with the high-resolution liquid chromatography technique. By means of the molecular study of chromosomal polymorphism with beta-globin S gene, the Bantu haplotype was observed. According to studies, there is strong association between the prevalence of Bantu haplotype and reduced levels of fetal Hb and Hb D-Punjab as a stimulating factor for S polymerization, what contributes to the hematological disorders of the disease and organ damage, as gallstones and aseptic necrosis of the femoral head.RESUMO Reportamos o primeiro caso de hemoglobinopatia SD-Punjab, uma forma rara da doen ça falciforme, no estado da Bahia. A detecção ocorreu pelo exame para identificação de hemoglobinas (Hb) variantes com técnica de cromatografia líquida de alta resolução. Através do estudo molecular do polimorfismo no cromossomo com gene da betaglobina S, verificou-se a presença do hapló tipo Bantu. Segundo estudos, existe forte associação de prevalência do haplótipo Bantu e níveis reduzidos da Hb fetal e da Hb D-Punjab como fator de estímulo à polimerização da S, o que contribui para os distúrbios hematológicos da doença e a lesão d...
Source: Jornal Brasileiro de Patologia e Medicina Laboratorial - Category: Pathology Source Type: research

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Publication date: Available online 2 April 2019Source: Journal of Taibah University Medical SciencesAuthor(s): Zakaria M. Alhawsawi, Amna M. Alshenqeti, Amal M. Alqarafi, Leema K. Alhussayen, Waheed A. Turkistani
Source: Journal of Taibah University Medical Sciences - Category: Universities & Medical Training Source Type: research
Authors: Niccoli Asabella A, Altini C, Nappi AG, Lavelli V, Ferrari C, Marzullo A, Loiodice A, Rubini G Abstract Sickle cell disease (SCD) is the best known haemoglobinopathy, caused by a mutation substituting valina for glutamic acid at position 6 of the beta-globin chain of adult hemoglobin A, resulting in hemoglobin S (HbS). The homozygous HbS disease (HbSS), an autosomal recessive disorder, is the most common form and the Mediterranean area, along with sub-Saharian African and India, have the highest prevalence (1%-15%). In particular, Sicily with a prevalence of 2%-5%, is among the most interested regions. How...
Source: Hellenic Journal of Nuclear Medicine - Category: Nuclear Medicine Tags: Hell J Nucl Med Source Type: research
Patients with sickle cell disease can develop liver disease as a result of intrahepatic sickling of erythrocytes, viral hepatitis and iron overload secondary to multiple blood transfusions, and gallstone disease as a result of chronic hemolysis. The spectrum of clinical liver disease is wide and often multifactorial. Some patients develop cirrhosis that may progress to end-stage liver failure. Limited evidence exists for medical treatments. Exchange blood transfusions may improve outcomes in the acute liver syndromes. Liver transplantation may be an option for chronic liver disease. The role for prophylactic cholecystectom...
Source: Clinics in Liver Disease - Category: Gastroenterology Authors: Source Type: research
ConclusionSickle cell disease can be diagnosed by newborn screening but, as in this case, may have a delayed presentation. The delay in diagnosis of homozygous sickle cell disease illustrates that other genetic disorders should be considered in patients who already have a diagnosis of one Mendelian disorder but show atypical features.
Source: Journal of Medical Case Reports - Category: General Medicine Source Type: research
ConclusionsThis is the first report describing prevalence of SCD-related complications in the MU-SCD Cohort. We identified this population to have an increasing frequency of hemolytic complications and sickle cell nephropathy with advancing age. Onset of persistent proteinuria occurred in the second decade of life, followed by renal insufficiency or end stage renal disease in subsequent decades. As previously demonstrated in the Cooperative Study of Sickle Cell Disease and the Jamaican SCD Cohort study, renal insufficiency was a significant risk factor for early mortality. Further studies are required for identification of...
Source: Blood - Category: Hematology Authors: Tags: 114. Hemoglobinopathies, Excluding Thalassemia-Clinical: Poster I Source Type: research
Conclusion Early onset of MoyaMoya syndrome related stroke postoperatively after laparoscopic cholecystectomy is difficult to be assessed immediately. Acute stroke is an infrequent disease of pediatric age group patients. MoyaMoya is a rare cerebrovascular disease of unknown etiology. Our patient is 7 year-old male child who presented immediately postoperatively with abnormal movement of right upper and lower limbs and right upper limb weakness, and no history of MoyaMoya syndrome, which is rare, but important cause of stroke in children. Cerebral revascularization surgery leads to favorable outcome. The present case highl...
Source: Journal of Pediatric Surgery Case Reports - Category: Surgery Source Type: research
AbstractBackgroundLaparoscopic cholecystectomy (LC) is one of the most frequent surgeries performed in patients with sickle cell disease (SCD). LC in SCD patients is associated with a particularly high postoperative morbidity. The aim of the present study is to assess the safety and feasibility of cholecystectomy performed by mini-laparoscopy with low- and stable-pressure pneumoperitoneum (MLC  + LSPP) and to compare the rate of postoperative SCD-related morbidity with standard LC.MethodsThirty-five consecutive SCD patients admitted between November 2015 and March 2017 for cholelithiasis requiring surgery wer...
Source: Surgical Endoscopy - Category: Surgery Source Type: research
In conclusion, 62% of the sickle cell patients in this prospective cohort study developed a new SCD‐related complication in a comprehensive care setting within 7 years of follow‐up. Although the hospital admission rate for VOC remained stable, multiple forms of organ damage increased substantially. These observations underline the need for continued screening for organ damage in all adult patients with SCD.
Source: American Journal of Hematology - Category: Hematology Authors: Tags: RESEARCH ARTICLE Source Type: research
In conclusion, 62% of the sickle cell patients in this prospective cohort study developed a new SCD‐related complication in a comprehensive care setting within 7 years of follow‐up. Although the hospital admission rate for VOC remained stable, multiple forms of organ damage increased substantially. These observations underline the need for continued screening for organ damage in all adult patients with SCD. This article is protected by copyright. All rights reserved.
Source: American Journal of Hematology - Category: Hematology Authors: Tags: Research Article Source Type: research
Sβ-thalassemia (Sβ-thal) is common among Gulf Arab patients with sickle cell disease, but the phenotype of this group had not been well-documented. We have studied a group of Kuwaiti patients and compared the phenotype in the homozygotes (SS) and Sβ-thal patients. Complete blood count, hemoglobin quantitation, serum bilirubin, and lactate dehydrogenase were determined with standard techniques. The patients were screened for α-globin genotype. The Sβ-thal patients were also screened for the HBG2 Xmn-1 polymorphism. β-Thal mutations were determined by arrayed primer extension or direct sequenci...
Source: Journal of Pediatric Hematology Oncology - Category: Hematology Tags: Original Articles Source Type: research
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