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Concept: Anemias


Stroke is a major complication of sickle cell anaemia (SCA). It occurs commonly in childhood with about 10 % of children with sickle cell anaemia getting affected by this complication. In Uganda, there is paucity of data on the prevalence of stroke in children admitted in a tertiary institution. We determined the prevalence of stroke amongst children with SCA admitted to Mulago National Referral Hospital in Uganda and described the ir co-morbidities.

Concepts: Red blood cell, Sickle-cell disease, Sickle, Anemias


David Osrin and Edward Fottrell comment on new research by Frédéric Piel and colleagues on the growing burden of sickle cell anemia, and discuss the need for changing policy and health services in response to epidemiologic transitions in child mortality. Please see later in the article for the Editors' Summary.

Concepts: Red blood cell, Sickle-cell disease, Sickle, Hematopathology, Anemias


With transcranial Doppler (TCD) screening, we can identify children and adolescents with sickle cell anemia who are at the highest risk of stroke. An accurate claims-based method for identifying children and adolescents with sickle cell anemia was recently developed and validated that establishes the necessary groundwork to enable large population-based assessments of health services utilization among children and adolescents with sickle cell anemia using administrative claims data.

Concepts: Health care, Red blood cell, Sickle-cell disease, Identification, Cellular manufacturing, Sickle, Hematopathology, Anemias


Chronic blood transfusion is the standard of care in the management of overt stroke due to sickle cell anemia (SS) to prevent recurrence of stroke. The problem arises when children are transitioned to adult care where blood transfusion may be discontinued. The purpose of this study was to report the outcome of 22 patients with SS and overt stroke who were transitioned to our adult program between 1993 and 2009.

Concepts: Mutation, Malaria, Red blood cell, Hematology, Sickle-cell disease, Blood transfusion, Sickle, Anemias


The congenital dyserythropoietic anemias are a heterogeneous group of disorders characterized by anemia and ineffective erythropoiesis. Congenital dyserythropoietic anemia type I (CDA1) can present in utero with hydrops fetalis, but more often it presents in childhood or adulthood with moderate macrocytic anemia, jaundice, and progressive iron-overload. CDA1 is inherited in an autosomal recessive manner, with biallelic pathogenic variants in CDAN1 or C15orf41. This case report documents a severe fetal presentation of CDA1 where we identified two novel compound heterozygous mutations in CDAN1 and describes the associated pathologic findings and levels of iron-regulatory proteins hepcidin, erythroferrone, and GDF15.

Concepts: Hemoglobin, Anemia, Zygosity, Compound heterozygosity, Hydrops fetalis, Anemia of chronic disease, Macrocytic anemia, Anemias


Pearson syndrome (PS) is a rare mitochondrial disorder that usually presents with transfusion-dependent macrocytic anemia, exocrine pancreatic dysfunction, and lactic acidosis. Typical bone marrow (BM) features are vacuolization in hematopoietic progenitors, hypocellularity, and ringed sideroblasts. At the neonatal age, PS may have a variable clinical onset. Moreover, there is little information about BM features at this age and the timing of their presentation. We report a neonatal case of PS that presented with refractory anemia and atypical BM features. We reviewed the BM findings in neonatal-onset PS cases to stress the importance and limitations of BM evaluation at this age.

Concepts: Bone marrow, Anemia, Blood disorders, Case, Endocrine system, Macrocytic anemia, Anemias


The purpose of this study is to determine and compare the prevalence of restless legs syndrome (RLS) between adult patients with sickle cell disease (SCD) and non-SCD anemia.

Concepts: Disease, Red blood cell, Syndromes, Sickle-cell disease, Sickle, Restless legs syndrome, Ferritin, Anemias


The purpose of this work was to (1) compare pharmacokinetic (PK) parameters for hydroxycarbamide in children receiving their first dose (HCnew ) versus those receiving chronic therapy (HCchronic ), (2) assess the external validity of a published PK dosing strategy, and (3) explore the accuracy of dosing strategies based on a limited number of HC measurements.

Concepts: Pharmacology, Red blood cell, Psychometrics, Pharmacokinetics, Sickle-cell disease, Strategy, Sickle, Anemias


To estimate the association between sickle cell anaemia or trait with dental and jaw bone abnormalities.

Concepts: Bone, Red blood cell, The Association, Sickle-cell disease, Sickle, Hematopathology, Haemolytic anaemias, Anemias


The aim of this study was to analyze the prevalence of dental and jaw changes in individuals with sickle cell anemia (SCA) compared with a control group from a Brazilian population.

Concepts: Scientific control, Red blood cell, Prevalence, Sickle-cell disease, Sickle, Anemias