Sickle cell disease—genetics, pathophysiology, clinical presentation and treatment

BPD Inusa, LL Hsu, N Kohli, A Patel… - International journal of …, 2019 - mdpi.com
Sickle cell disease (SCD) is a monogenetic disorder due to a single base-pair point mutation
in the β-globin gene resulting in the substitution of the amino acid valine for glutamic acid in …

[HTML][HTML] Sickle cell disease in childhood: from newborn screening through transition to adult medical care

CT Quinn - Pediatric Clinics of North America, 2013 - ncbi.nlm.nih.gov
Sickle cell disease (SCD) is the name for a group of genetic blood disorders caused by
sickle hemoglobin (Hb S). The 2 key features of SCD are chronic hemolytic anemia and …

Sickle cell disease: monitoring, current treatment, and therapeutics under development

C Hoppe, L Neumayr - Hematology/Oncology Clinics, 2019 - hemonc.theclinics.com
Sickle cell disease (SCD) is a complex, clinically heterogeneous disorder affecting
approximately 100,000 individuals in the United States and millions worldwide. The disease …

Sickle cell disease: a review

PL Kavanagh, TA Fasipe, T Wun - Jama, 2022 - jamanetwork.com
Importance Sickle cell disease (SCD) is an inherited disorder of hemoglobin, characterized
by formation of long chains of hemoglobin when deoxygenated within capillary beds …

Sickle cell disease

PA Lane - Pediatric Clinics, 1996 - pediatric.theclinics.com
The first clinical description of sickle cell anemia was published in 1910 by Herri~ k?~ who
reported some of the clinical and hematologic manifestations of the disorder in a 20-year-old …

Sickle cell disease: a neglected chronic disease of increasing global health importance

S Chakravorty, TN Williams - Archives of disease in childhood, 2015 - adc.bmj.com
Sickle cell disease (SCD) is a single gene disorder causing a debilitating systemic
syndrome characterised by chronic anaemia, acute painful episodes, organ infarction and …

Sickle cell disease

B MA - GeneReviews®. Seattle(WA): University of Washington …, 2003 - researchgate.net
Sickle cell disease (SCD) is a group of inherited disorders caused by mutations in HBB,
which encodes haemoglobin subunit β. The incidence is estimated to be between 300,000 …

Sickle cell disease: clinical presentation and management of a global health challenge

ME Houwing, PJ De Pagter, EJ Van Beers, BJ Biemond… - Blood reviews, 2019 - Elsevier
Sickle cell disease is an autosomal recessive, multisystem disorder, characterised by
chronic haemolytic anaemia, painful episodes of vaso-occlusion, progressive organ failure …

Sickle cell disease

GJ Kato, FB Piel, CD Reid, MH Gaston… - Nature reviews Disease …, 2018 - nature.com
Sickle cell disease (SCD) is a group of inherited disorders caused by mutations in HBB,
which encodes haemoglobin subunit β. The incidence is estimated to be between 300,000 …

Sickle cell disease in children

ER Meier, JL Miller - Drugs, 2012 - Springer
Early identification of infants with sickle cell disease (SCD) by newborn screening, now
universal in all 50 states in the US, has improved survival, mainly by preventing …