REASONS AND REVIEW OF LATE DIAGNOSIS IN SICKLE CELL DISEASE – CASE REPORTS

Author(s):  
Karuna Rameshkumar
Hemoglobin ◽  
2017 ◽  
Vol 41 (2) ◽  
pp. 131-133 ◽  
Author(s):  
Roberta D’Ambrosio ◽  
Marco Maggioni ◽  
Maria F. Donato ◽  
Pietro Lampertico ◽  
Maria D. Cappellini ◽  
...  

2021 ◽  
Vol 2021 ◽  
pp. 1-7
Author(s):  
Alexis Claeys ◽  
Susanne Van Steijn ◽  
Lydia Van Kesteren ◽  
Elizabet Damen ◽  
Machiel Van Den Akker

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.


2003 ◽  
Vol 42 (145) ◽  
pp. 36-38 ◽  
Author(s):  
Ram Chandra Adhikari ◽  
T B Shrestha ◽  
R B Shrestha ◽  
R C Subedi ◽  
K P Parajuli ◽  
...  

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.


2021 ◽  
Author(s):  
Igor Vilela Brum ◽  
Guilherme Diogo Silva ◽  
Diego Sant'Ana Sodre ◽  
Felipe Melo Nogueira ◽  
Samira Luisa dos Apostolos Pereira ◽  
...  

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.


2003 ◽  
Vol 14 ◽  
pp. S64
Author(s):  
C. Rolao ◽  
F. Araújo ◽  
R. Simoes ◽  
F. Rego ◽  
J.L. DuclaSoares

2013 ◽  
Vol 7 (8) ◽  
pp. e2203 ◽  
Author(s):  
Fleur M. Moesker ◽  
Fred D. Muskiet ◽  
Jeanne J. Koeijers ◽  
Pieter L. A. Fraaij ◽  
Isaac Gerstenbluth ◽  
...  

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