A Patient with a Previous Diagnosis of Hemoglobin S/C Disease with an Unusually Severe Disease Course

O'Keeffe, Elizabeth K; Rhodes, Melissa; Woodworth, Alison

doi:10.1373/clinchem.2008.112326

Cited by 9 publications

(6 citation statements)

References 8 publications

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“… 36 Moreover, HbC-Harlem migrates like HbC in alkaline electrophoresis, hence HbSC-Harlem disease can easily be misdiagnosed as HbSC disease as previously reported in the literature. 37 The similarity in alkaline electrophoretic mobility between HbC and HbC-Harlem makes it possible to misdiagnose HbCC as HbCC-Harlem if alkaline electrophoresis is used as the sole diagnostic technique. 38 But this misdiagnosis and diagnostic pitfall can be clinically clarified by the presence of VOC in HbCC-Harlem, whereas HbCC disease does not cause VOC.…”

Section: Introductionmentioning

confidence: 99%

Non-S Sickling Hemoglobin Variants: Historical, Genetic, Diagnostic, and Clinical Perspectives

Ahmed¹,

Ibrahim²

2021

Oman Med J

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Apart from hemoglobin-S (HbS), there are other Hb variants (non-S sickling Hb variants) that cause sickle cell disease. However, the profiles of these non-S sickling Hb variants have neither been collated nor harmonized. A literature search revealed 14 non-S sickling Hb variants (HbC-Harlem, HbC-Ziguinchor, HbS-Travis, HbS-Antilles, HbS-Providence, HbS-Oman, HbS-Cameroon, HbS-South End, Hb Jamaica Plain, HbC-Ndjamena, HbS-Clichy, HbS-San Martin, HbS-Wake, and HbS-São Paulo). Generally, the non-S sickling Hb variants are double mutants with the HbS mutation (GAG>GTG: βGlu6Val) and additional β-chain mutations. Consequently, non-S sickling Hb variants give positive solubility and sickling tests, but they differ from HbS with respect to stability, oxygen affinity, and electro-chromatographic characteristics. Similarities and discrepancies between HbS and non-S sickling Hb variants create diagnostic pitfalls that can only be resolved by elaborate electro-chromatographic and/or genetic tests. It is therefore imperative that tropical hematologists should have a thorough understanding of these atypical sickling Hb variants. Collated and harmonized appraisal of the non-S sickling Hb variants have not been previously undertaken. Hence, this paper aims to provide a comprehensive but concise historical, genetic, comparative, diagnostic, and clinical overview of non-S sickling Hb variants. The elaborate techniques often required for precise diagnosis of non-S sickling Hb variants are regrettably not readily available in low resource tropical countries, which paradoxically carry the heaviest burden of sickling disorders. We strongly recommend that tropical countries should upgrade their diagnostic laboratory facilities to avoid misdiagnosis of these atypical Hb mutants.

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Section: Introductionmentioning

confidence: 99%

Non-S Sickling Hemoglobin Variants: Historical, Genetic, Diagnostic, and Clinical Perspectives

Ahmed¹,

Ibrahim²

2021

Oman Med J

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“…In HbSC disease, Hb C enhances the pathogenic properties of Hb S. Though HbSC and HbSS share common clinical features and complications, these were said to be milder, less frequent and to occur much later in life in HbSC compared to HbSS patients [ 6 , 7 ]. As a result, HbSC disease has long been considered to be a milder variant of HbSS disease; but a study by Lamarre et al in 2012 suggests that it is a distinct disease entity [ 8 ], with a greater prevalence of retinopathy, sensori-neural disorders and osteonecrosis than HbSS.…”

Section: Introductionmentioning

confidence: 99%

Plasma levels of some coagulation parameters in Steady State HBSC disease patients

Ajuwon¹,

Olayemi²,

Benneh³

2014

Pan Afr Med J

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IntroductionSickle cell disease is a collection of autosomal recessive genetic disorders. It includes homozygous HbSS and double heterozygote combinations such as HbSC. Central and West Africa bears a significant burden of HbSC disease.MethodsProthrombin time (PT), activated partial thromboplastin time (APTT), fibrinogen concentration (FC) and platelet count (PC) were determined in 41HbSC and HbSS patients in steady state along with 40 apparently healthy HbAA controls. One way ANOVA test was used to compare means; p values< 0.05 were considered statistically significant.ResultsThere was no significant difference in mean PT for the study groups (p = 0.192). Mean PC was highest in HbSS patients: 445.7 +/- 128.3 X 10 9/ L compared to HbSC: 330.0 +/- 97.7 X 10 9/ L andHbAA:245 +/- 77.7 X 10 9/ L (p= 0.000). Mean APTT was 28.1 +/- 3.8 seconds in controls,24.1 + /- 66 seconds in HbSS patients and 21.8 +/- 3.8 seconds in HbSC patients (p = 0.000). Mean FC in HbSS was 1.6 +/- 0.7 g/L, 3.2 +/- 0.6 g/L in HbSC and 2.9 +/- 0.4 g/L in HbAA (p =0.000).ConclusionA significant difference exists in PC, APTT and FC in HbSC patients compared to HbSS patients and HbAA controls. Elevated FC and shortened APTT may play a role in complications more characteristic of HbSC such as retinopathy and osteonecrosis. These suggestHbSC is not merely a milder form of HbSS; both diseases should be seen as different entities with regards to approaches for management.

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“…The presence of HbA at lower concentrations (5-30%) is also an expected finding in cases of sickle cell beta thalassemia, which may also manifest an increased HbA2 on hemoglobin electrophoresis and is typically accompanied by microcytic red cell morphology. HbSC Limited red cell phenotype (5,6). In this case, the patient's circulating Hb was comprised predominantly of HbA and an unknown, variant Hb with a peak area of 24%, eluting in the HbC window, and no HbS (Fig.…”

Section: Discussionmentioning

confidence: 86%

A Patient in Need of a Red Cell Exchange?

Perez-Alvarez

Crews

Woo

et al. 2020

The Journal of Applied Laboratory Medicine

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A Patient with a Previous Diagnosis of Hemoglobin S/C Disease with an Unusually Severe Disease Course

Cited by 9 publications

References 8 publications

Non-S Sickling Hemoglobin Variants: Historical, Genetic, Diagnostic, and Clinical Perspectives

Non-S Sickling Hemoglobin Variants: Historical, Genetic, Diagnostic, and Clinical Perspectives

Plasma levels of some coagulation parameters in Steady State HBSC disease patients

A Patient in Need of a Red Cell Exchange?

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