scholarly journals SICKLE CELL DISEASE - CASE REPORTS

2003 ◽  
Vol 42 (145) ◽  
pp. 36-38 ◽  
Author(s):  
Ram Chandra Adhikari ◽  
T B Shrestha ◽  
R B Shrestha ◽  
R C Subedi ◽  
K P Parajuli ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Joint Pain ◽  
Case Reports ◽  
Cell Disease ◽  
Hematological Diseases ◽  
First Case ◽  
Disease Case ◽  
The World ◽  
Homozygous Sickle Cell Disease

ABSTRACTSickle cell diseases are inherited hematological diseases, prevalent in certain parts of the world. We reporttwo cases of sickle cell diseases, first being sickle cell b-thalassaemia and second homozygous sickle celldisease (SS). Our first case was 5 year old boy presenting with hemolytic anaemia & hepatosplenomegalyhaving sickle cell b-thalassaemia disease . Second case was 17 years female presenting with hemolyticanaemia & joint pain having homozygous sickle cell disease.Key Words: Homozygous sickle cell disease, sickle cell b - thalassaemia, hemoglobin electrophoresis.

scholarly journals Myelopathy in sickle cell disease: a case-oriented review

2021 ◽  
Author(s):  
Igor Vilela Brum ◽  
Guilherme Diogo Silva ◽  
Diego Sant'Ana Sodre ◽  
Felipe Melo Nogueira ◽  
Samira Luisa dos Apostolos Pereira ◽  
...  
Keyword(s):  
Spinal Cord ◽  
Case Report ◽  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Case Reports ◽  
Spinal Cord Infarction ◽  
Sensory Level ◽  
Cell Disease ◽  
Hematopoietic Tissue ◽  
First Case

Background: Although neurological complications are well recognized in sickle cell disease (SCD), myelopathy has been rarely described. We present the first case report of longitudinally extensive myelitis (LETM) in SCD and review the differential diagnosis of myelopathy in these patients. Design and setting: case-oriented review. Methods: We report the case of a 29-year-old African-Brazilian man with SCD, who experienced a subacute flaccid paraparesis, with T2 sensory level and urinary retention. CSF analysis showed a lymphocytic pleocytosis and increased protein levels. MRI disclosed a longitudinally extensive spinal cord lesion, with a high T2/STIR signal extending from C2 to T12. Serum anti-aquaporin-4 antibody was negative. We searched Medline/ PubMed, Embase, Scopus, and Google Scholar databases for myelopathy in SCD patients. Results: Spinal cord compression by vertebral fractures, extramedullary hematopoietic tissue, and Salmonella epidural abscess have been reported in SCD. We found only three case reports of spinal cord infarction, which is unexpectedly infrequent compared to the prevalence of cerebral infarction in SCD. We found only one case report of varicella-zoster myelitis and no previous report of LETM in SCD patients. Conclusion: Specific and time-sensitive causes of myelopathy should be considered in SCD patients. In addition to compression and ischemia, LETM should be considered as a possible mechanism of spinal cord involvement in SCD.

Decompensated Cirrhosis and Sickle Cell Disease: Case Reports and Review of the Literature

Hemoglobin ◽  
2017 ◽  
Vol 41 (2) ◽  
pp. 131-133 ◽  
Author(s):  
Roberta D’Ambrosio ◽  
Marco Maggioni ◽  
Maria F. Donato ◽  
Pietro Lampertico ◽  
Maria D. Cappellini ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Case Reports ◽  
Decompensated Cirrhosis ◽  
Review Of The Literature ◽  
Cell Disease ◽  
Disease Case

scholarly journals Varied Age of First Presentation of Sickle Cell Disease: Case Presentations and Review

2021 ◽  
Vol 2021 ◽  
pp. 1-7
Author(s):  
Alexis Claeys ◽  
Susanne Van Steijn ◽  
Lydia Van Kesteren ◽  
Elizabet Damen ◽  
Machiel Van Den Akker
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Case Reports ◽  
Fetal Hemoglobin ◽  
Hemoglobin Concentration ◽  
Late Presentation ◽  
Cell Disease ◽  
Disease Case ◽  
Case Presentations ◽  
The Individual

Sickle cell disease is a multisystem condition characterized by hemolytic anemia and vasoocclusion. Not only are the symptoms of the first presentation but also the ages of presentation are very variable. Following three case reports, different causes of possible late presentation are discussed. Many factors are responsible for the age at which sickle cell disease is diagnosed: doctor’s delay (unfamiliarity with the disease), patient’s delay (education and financial position of the parents, cultural factors), high- versus low-resource country (availability of newborn screening), fetal hemoglobin, reticulocyte count, and genetic modulators, such as SCD genotype, alpha-thalassemia, fetal hemoglobin concentration, and G6PD deficiency. The individual course of sickle cell disease depends on (epi) genetic and environmental properties and the underlying interactions. In further studies, the role of each factor should be evaluated more deeply, and its use as a marker of disease severity or activity should be assessed.

scholarly journals Two Case reports on Sickle Cell Disease: Presented with Pallor and recurrent Attacks of Bones and Joints Pain

2017 ◽  
Vol 29 (2) ◽  
pp. 51-54
Author(s):  
Md Mahabubul Islam Majumder ◽  
Tarek Ahmed ◽  
Saleh Ahmed ◽  
Mohammad Abdulla A Zubayer Khan ◽  
Chinmoy Kumar Saha
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Close Contact ◽  
Case Reports ◽  
Acute Attack ◽  
Sub Saharan Africa ◽  
Significant Advance ◽  
Acute Chest Syndrome ◽  
Cell Disease ◽  
First Case

Sickle cell disease is a hereditary hemolytic anaemia due to abnormal haemoglobin. Sickling of RBCs occurs due to abnormal hemoglobin which leads to vaso-occlusive crisis. The highest frequency of sickle cell disease is found in tropical regions, particularly in Sub-Saharan Africa, tribal regions of India and in Middle-East. Though sickle cell disease is not common in our country, recently we have two cases of sickle cell disease presented with fatigue and pallor with bones and joints pains. These cases were diagnosed by electrophoresis of hemoglobin, peripheral smear, Sickling test and relevant investigations. The most significant advance in the therapy of sickle cell anaemia is the introduction of Hydroxyurea to prevent acute chest syndrome, number of pain crisis, repeated transfusions and number of trips to hospital. Hydroxyurea is considered in first case (case no. 1) as he has frequent episodes of acute attack and recover well after blood transfusion. Case no.2 also a good candidate for Hydroxyurea but not given as his acute attack is less frequent and in close contact for further observation and evaluation.Medicine Today 2017 Vol.29(2): 51-54

scholarly journals OCCURRENCE OF UNUSUAL HAEMOGLOBINOPATHIES IN BALOCHISTAN: HB SD AND HB SE - PRESENTATION WITH OSTEOMYELITIS

2021 ◽  
Vol 39 ◽  
Author(s):  
Usman Tauseef ◽  
Misbah Anjum ◽  
Mohsina Ibrahim ◽  
Hina Sabih Baqai ◽  
Abubakar Tauseef ◽  
...  
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
The Other ◽  
Variable Frequency ◽  
Case Description ◽  
Cell Disease ◽  
Disease Case ◽  
The World ◽  
Heterogeneous Nature ◽  
Compound Heterozygotes

ABSTRACT Objective: To describe two cases of unusual variants of sickle cell disease. Case description: We present two cases of sickle cell disease variants (haemoglobinopathies), from unrelated families, in the state of Balochistan (Pakistan). One was diagnosed with sickle cell disease in the haemoglobin electrophoresis, whereas the other was diagnosed with sickle cell SE disease. Both were diagnosed based on the presentation of osteomyelitis. Comments: Haemoglobin SD disease (Hb SD) and haemoglobin SE disease (Hb SE) are rare haemoglobinopathies in the world. The lack of available literature suggests that both are variants of sickle cell disease (SCD), with heterogeneous nature. The prevalence of sickle cell disease with compound heterozygotes was found at a variable frequency in the population of the Asian Southeast. The frequency of osteomyelitis in SCD is 12 to 18%, but its occurrence among variant haemoglobinopathies is little reported. Both reported cases presented with osteomyelitis as a characteristic of the disease presentation.

scholarly journals Use of Eculizumab for the Treatment of Hyperhaemolysis in Pregnancy in Sickle Cell Disease: A Case Report

Blood ◽  
2018 ◽  
Vol 132 (Supplement 1) ◽  
pp. 4922-4922
Author(s):  
Laura Chebet Kirui ◽  
Marie Scully ◽  
Norma Mcqueen ◽  
John Porter ◽  
Perla Eleftheriou
Keyword(s):  
Case Report ◽  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Case Reports ◽  
Complex Problem ◽  
Red Cell ◽  
Cell Disease ◽  
Safe Delivery ◽  
First Case ◽  
In Pregnancy

Abstract Hyperhaemolysis is a rare but well recognized complication of transfusion in sickle cell disease, associated with increased mortality. The pathogenesis is not well understood and is likely to be multifactorial. There is no gold standard management of hyperhaemolysis; immunosuppression with steroids and intravenous immuoglobulins has been the mainstay of treatment. More recently Rituximab and Eculizumab are increasingly used. Hyperhaemolysis in pregnancy is an even more complex problem with compounded risk to the mother and foetus. This case reports a 29 year old female with HbSS who presented with hyperhaemolysis in pregnancy at 25 weeks gestation, 7 days after a red cell transfusion for a vaso-occlusive crisis. The patient received 1 g methylprednisolone and 2g/kg immunoglobulins in divided doses. Despite this, she required further blood transfusion as the haemoglobin was declining further and was symptomatic for her anaemia. Her haemoglobin reached a nadir level of 39 g/l. Therefore she was treated with Eculizumab 900 mg iv pre transfusion to prevent exacerbation of the haemolysis triggered by the transfusion. Her haemoglobin stabilised and the haemolysis resolved within 48 hours. She delivered safely at 34 weeks gestation. The DAT remained negative throughout and no new red cell antibodies were detected. Urine HPLC confirmed the presence of HbA and HbS in the urine, confirming the diagnosis. The urine HPLC 48 hr post Eculizumab and 2 further red cell units was clear, demonstrating no further haemolysis with the additional red cells given. This is the first case report detailing the use of Eculizumab for the management of hyperhaemolysis in pregnancy in sickle cell disease. The patient tolerated the treatment which resulted in resolution of the haemolysis, with safe delivery at 34 weeks gestation. The possible role of complement activation in hyperhaemolysis is discussed. The use of Eculizumab in other case reports of hyperhaemolysis is reviewed. The ideal dosing schedule remains uncertain. This report strongly suggests that Eculizumab should be accessible and considered in severe cases of hyperhaemolysis which are refractory to standard treatment. It also suggests safe usage in pregnancy in sickle cell patients. Disclosures Scully: Novartis: Honoraria, Other: Member of Advisory Board, Speakers Bureau. Porter:Cerus: Honoraria; Novartis: Consultancy; Agios: Honoraria.

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