Sickle-cell haemoglobin C disease in London

Black, Alexander; Condon, P. I.; Gompels, B. M.; Green, R. L.; Huntsman, R. G.; Jenkins, G. C.

doi:10.1136/jcp.25.1.49

Cited by 10 publications

(6 citation statements)

References 24 publications

(20 reference statements)

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“…Newborn screening programs typically also screen for the structural variants HbC (β6 Glu→Lys Δm-0.9476 Da), HbD (β121 Glu→Gln Δm -0.9840 Da), HbE (β26 Glu→Lys Δm -0.9476 Da), and HbO-Arab (β121 Glu→Lys Δm -0.9476 Da). In the heterozygous or homozygous state these variants are benign but become clinically significant when co-inherited with HbS, resulting in sickling disorders [9,10]. In addition, screening may detect the presence of other variants that cannot be identified.…”

Section: Introductionmentioning

confidence: 99%

Top-Down Proteomics and Direct Surface Sampling of Neonatal Dried Blood Spots: Diagnosis of Unknown Hemoglobin Variants

Edwards

Griffiths

Bunch

et al. 2012

J. Am. Soc. Mass Spectrom.

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We have previously shown that liquid microjunction surface sampling of dried blood spots coupled with high resolution top-down mass spectrometry may be used for screening of common hemoglobin variants HbS, HbC, and HbD. In order to test the robustness of the approach, we have applied the approach to unknown hemoglobin variants. Six neonatal dried blood spot samples that had been identified as variants, but which could not be diagnosed by current screening methods, were analyzed by direct surface sampling top-down mass spectrometry. Both collision-induced dissociation and electron transfer dissociation mass spectrometry were employed. Four of the samples were identified as β-chain variants: two were heterozygous Hb D-Iran, one was heterozygous Hb Headington, and one was heterozygous Hb J-Baltimore. The fifth sample was identified as the α-chain variant heterozygous Hb Phnom Penh. Analysis of the sixth sample suggested that it did not in fact contain a variant. Adoption of the approach in the clinic would require speed in both data collection and interpretation. To address that issue, we have compared manual data analysis with freely available data analysis software (ProsightPTM). The results demonstrate the power of top-down proteomics for hemoglobin variant analysis in newborn samples.

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Section: Introductionmentioning

confidence: 99%

Top-Down Proteomics and Direct Surface Sampling of Neonatal Dried Blood Spots: Diagnosis of Unknown Hemoglobin Variants

Edwards

Griffiths

Bunch

et al. 2012

J. Am. Soc. Mass Spectrom.

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“…The resulting in abnormal fetal heart rate patterns, fetal cerebral vasodilatation and reduced amniotic volume. 4 In the present case, severe acute maternal anemia caused fetal hypoxemia, and fetal heart rate abnormalities that were detected by means of cardiotocography. It is likely that, if the maternal anemia had persisted, fetal cerebral injury could have taken place, or fetal death.…”

Section: Discussionmentioning

confidence: 49%

“…Black et al 4 reported the case of a 24-year-old woman with sickle-cell hemoglobin C disease who died as a consequence of splenic sequestration on the eleventh day postpartum. Solanki et al 2 described a 30-year-old woman with sicklecell ß-thalassemia that presented on the second postpartum day; this patient was discharged in a stable condition after transfusion.…”

Section: Discussionmentioning

confidence: 99%

Acute splenic sequestration in a pregnant woman with homozygous sickle-cell anemia

et al. 2013

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CONTEXT: Homozygous (SS) sickle-cell anemia complicated by acute splenic sequestration in adults is a rare event, and it has never been reported during pregnancy. CASE REPORT: A 25-year-old woman with homozygous (SS) sickle-cell disease was hospitalized at 32 weeks' of gestation presenting weakness, abdominal pain, fever and hemoglobin of 2.4 g/dl. Abnormal fetal heart rate was detected by means of cardiotocography, and 5 units of packed red cells were transfused. Cesarean was performed at 37 weeks. Both mother and baby were discharged in a good general condition.CONCLUSION: This case report demonstrates the importance of immediate blood transfusion for treatment of fetal distress in cases of splenic sequestration during pregnancy. This treatment is essential for avoiding maternal and fetal complications.RESUMO CONTEXTO: Anemia falciforme homozigótica (SS) complicada por sequestro esplênico agudo em adultos é evento raro, e nunca foi relatado durante a gravidez. RELATO DO CASO: Uma mulher de 25 anos, portadora de doença falciforme homozigótica (SS), com 32 semanas de gestação, foi internada apresentando fraqueza, dor abdominal, febre e hemoglobina de 2,4 g/ dl. Frequência cardíaca fetal anormal foi detectada pela cardiotocografia e a paciente recebeu 5 unidades de concentrado de hemácias. Cesariana foi realizada com 37 semanas. Mãe e filho receberam alta em bom estado geral. CONCLUSÃO: Este relato de caso demonstra a importância da transfusão imediata para o tratamento de sofrimento fetal nos casos de sequestro esplênico durante a gestação. Este tratamento é imprescindível para se evitarem complicações maternas e fetais.

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“…( 5 ) The coinheritance of βS and βC (HbSC) leads to a sickling disorder similar to sickle cell disease but generally less severe. ( 6 ) The hemoglobin D variant is caused by a mutation on the β chain at position 121 (glutamic acid for a glutamine), also resulting in a mass shift of less than −1 Da (Δ m = 0.9840 Da). The hemoglobin D (HbAD) trait (heterozygote) again causes no clinical manifestations but if coinherited with sickle (HbSD) causes considerable sickle-like health problems.…”

mentioning

confidence: 99%

“…Symptoms of the disease state include mild/moderate anemia and hemolysis . The coinheritance of βS and βC (HbSC) leads to a sickling disorder similar to sickle cell disease but generally less severe . The hemoglobin D variant is caused by a mutation on the β chain at position 121 (glutamic acid for a glutamine), also resulting in a mass shift of less than −1 Da (Δ m = 0.9840 Da).…”

mentioning

confidence: 99%

Hemoglobin Variant Analysis via Direct Surface Sampling of Dried Blood Spots Coupled with High-Resolution Mass Spectrometry

et al. 2011

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Hemoglobinopathies are the most common inherited disorders. Newborn blood screening for clinically significant hemoglobin variants, including sickle (HbS), HbC, and HbD, has been adopted in many countries as it is widely acknowledged that early detection improves the outcome. We present a method for determination of Hb variants by direct surface sampling of dried blood spots by use of an Advion Triversa Nanomate automated electrospray system coupled to a high-resolution mass spectrometer. The method involves no sample preparation. It is possible to unambiguously identify homozygous and heterozygous HbS, HbC, and HbD variants in <10 min without the need for additional confirmation. The method allows for repeated analysis of a single blood spot over a prolonged time period and is tolerant of blood spot storage conditions.

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Sickle-cell haemoglobin C disease in London

Cited by 10 publications

References 24 publications

Top-Down Proteomics and Direct Surface Sampling of Neonatal Dried Blood Spots: Diagnosis of Unknown Hemoglobin Variants

Top-Down Proteomics and Direct Surface Sampling of Neonatal Dried Blood Spots: Diagnosis of Unknown Hemoglobin Variants

Acute splenic sequestration in a pregnant woman with homozygous sickle-cell anemia

Hemoglobin Variant Analysis via Direct Surface Sampling of Dried Blood Spots Coupled with High-Resolution Mass Spectrometry

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