Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019045 (hemoglobinopathies)
 2,704 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Total and differential WBC counts were measured in 88 children with sickle cell hemoglobinopathies during the steady state, vaso-occlusive crisis, and bacterial infection. Steady state leukocyte values were lower than anticipated on the basis of currently available information. Total and segmented leukocyte numbers were greatly increased during vaso-occlusive crisis and infection, but only with bacterial infection was there a consistent increase in bands or nonsegmented leukocytes (mean, 4,580/microliter). On the basis of these data we believe that total and differential leukocyte counts are of value for identifying those children with potentially serious bacterial infections.
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PMID:Leukocyte counts in children with sickle cell disease. Comparative values in the steady state, vaso-occlusive crisis, and bacterial infection. 64 59

Sickle cell disease is an autosomal recessive hemoglobinopathy with significant morbidity and mortality. Complications include: vasoocclusive pain crisis, bacterial infection, cerebral vascular accident, acute chest syndrome, and chronic lung and kidney disease. Among many other factors affecting the severity of sickle cell disease, synthesis of fetal hemoglobin (HbF) emerged as an important prognostic factor and has long been recognized to decrease disease severity. This report discusses the attenuated clinical course of a child who continued to produce HbF well beyond the reported age of fetal switching. We further discuss the underlying genetic aspects of HbF production and review the pertinent literature.
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PMID:Benefits of delayed fetal hemoglobin (HbF) switching in sickle cell disease (SCD): a case report and review of the literature. 2358 30

With the developing COVID-19 pandemic, patients with inherited anaemias require specific advice regarding isolation and changes to usual treatment schedules. The National Haemoglobinopathy Panel (NHP) has issued guidance on the care of patients with sickle cell disease, thalassaemia, Diamond Blackfan anaemia (DBA), congenital dyserythropoietic anaemia (CDA), sideroblastic anaemia, pyruvate kinase deficiency and other red cell enzyme and membrane disorders. Cascading of accurate information for clinicians and patients is paramount to preventing adverse outcomes, such as patients who are at increased risk of fulminant bacterial infection due to their condition or its treatment erroneously self-isolating if their fever is mistakenly attributed to a viral cause, delaying potentially life-saving antibiotic therapy. Outpatient visits should be minimised for most patients, however some, such as first transcranial dopplers for children with sickle cell anaemia should not be delayed as known risk of stroke will outweigh the unknown risk from COVID-19 infection. Blood transfusion programmes should be continued, but specific changes to usual clinical pathways can be instituted to reduce risk of patient exposure to COVID-19, as well as contingency planning for possible reductions in blood available for transfusions. Bone marrow transplants for these disorders should be postponed until further notice. With the current lack of evidence on the risk and complications of COVID-19 infection in these patients, national data collection is ongoing to record outcomes and eventually to identify predictors of disease severity, particularly important if further waves of infection travel through the population.
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PMID:Protecting vulnerable patients with inherited anaemias from unnecessary death during the COVID-19 pandemic. 3233 Feb 88