Sickle Cell Disease
Overview
A red blood cell disorder caused by the presence of hemoglobin S in the absence of hemoglobin A. When deoxygenated, hemoglobin S causes red blood cells to deform into a sickle shape and become brittle. These cells are rapidly removed from the circulation, resulting in anemia, and cause occlusion of small blood vessels, resulting in injury to organs, ischemic pain, and increased risk of infection. Variant forms exist.Prevalence
About 1:500 African-American births and 1:1,000-1,400 Hispanic-American births. It occurs in African, Mediterranean (Greek, Turkish, Italian), Arabian, Indian, and Hispanic populations more commonly than in Northern European populations.Clinical Characteristics
Symptoms and symptom severity vary by individual. Onset may occur in infancy or childhood, but usually after 4 months of life.Symptoms may include:
- Anemia
- Jaundice
- Pain (most likely due to ischemia from vaso-oclussion)
- Enlarged spleen, followed by autosplenectomy
- Fever
- Increased susceptibility to infection, particularly with pneumococcus
- Acute chest syndrome (associated with infection, surgery/general anesthesia, pulmonary infarction or embolism)
- Leg ulcers
- Fatigue
- Pneumonia
- Splenic sequestration
- Bone damage
- Kidney damage
- Aplastic crisis (associated with parvoviral infection)
- Gallstones
- Priapism
- Bloody urine
- Stroke
- Spleen damage and infections
- Eye damage and blindness
- Growth retardation
- Delayed maturation
Follow-up Testing after Positive Screen
Hemoglobin electrophoresis for hemoglobin separation, high performance liquid chromatography, to confirm screening results. DNA testing to determine genotype.Primary Care Management
Upon Notification of the + Screen
- Contact the family and evaluate the infant for related symptoms, e.g. splenomegaly.
- Provide emergency treatment/referral for any acute problems (unlikely in the newborn period).
- To confirm the diagnosis, work with the following service(s): we currently have no Newborn Screening Programs service providers listed, please search our Services database for related services.
- For evaluation and ongoing collaborative management, consult the following service(s): Children's Neurodevelopment Center, (401-444-5685); See also Services below,
If the Diagnosis is Confirmed
- Educate the family regarding signs and symptoms of splenic sequestration, the need for urgent care when the infant has a fever, and long-term care and outcomes.
- Educate the family regarding the need to maintain current childhood immunizations.
- Prophylactic penicillin, transfusions, folic acid supplements, and prevention of dehydration may be indicated for affected children.
- Pain and symptom management are indicated for affected children in sickle cell crisis.
- Newer drug therapies, including hydroxyurea, and bone marrow transplants may be considered for severely-affected children after consultation with a specialist.
- For those identified after irreversible consequences, assist in management, particularly with low vision aids, developmental and educational interventions, and psychosocial assistance.
Specialty Care Collaboration
Initial consultation and ongoing collaboration, particularly to assure taking advantage of the latest treatments and for management of complications. Genetic counseling for the family. Bone marrow transplantation may provide long-term benefit.Resources
Information & Support
For Professionals
Sickle Cell Disease (GeneReviews)
An expert-authored, peer-reviewed, current disease description that applies genetic testing to diagnosis and management information;
U.S. National Library of Medicine.
Sickle Cell Anemia (OMIM)
Extensive review of literature that provides technical information on genetic disorders; Online Mendelian Inheritance in Man
site, hosted by Johns Hopkins University.
Hemoglobinopathies (UDOH)
More than 30 English and Spanish documents for providers and families on different hemoglobinopathies; Utah Department of
Health, Newborn Screening Program.
Genetics in Primary Care Institute (AAP)
The goal of this site is to increase collaboration in the care of children with known or suspected genetic disorders. It includes
health supervision guidelines and other useful resources; represents a collaboration among the Health Resources & Services
Administration, the Maternal and Child Health Bureau, and the American Academy of Pediatrics.
For Parents and Patients
Sickle Cell Disease (Genetics Home Reference)
Excellent, detailed review of condition for patients and families; sponsored by the U.S. National Library of Medicine.
The Sickle Cell Information Center
Information for parents, providers, students, legislators, and the public; clinical guidelines, protocols, and PDA tools;
educational presentations and materials; news; links to websites for kids; and links to many other resources and organizations;
hosted by Grady Health System/Morehouse School of Medicine.
Hemoglobinopathies (UDOH)
More than 30 English and Spanish documents for providers and families on different hemoglobinopathies; Utah Department of
Health, Newborn Screening Program.
Sickle Cell Disease Association of America (SCDAA)
A patient advocacy site with information for the public.
Patient Education
What is Sickle Cell Disease? (GSLC)
A brief educational overview of single gene disorders that includes the genetics of sickle cell disease; Genetic Science Learning
Center at the University of Utah.
Tools
ACT Sheet for Sickle Cell Disease (ACMG) (
117 KB)
Contains short-term recommendations for clinical follow-up of the newborn who has screened positive; American College of Medical
Genetics.
Confirmatory Algorithms for Sickle Cell Disease (Hb S) (ACMG)
An algorithm of the basic steps involved in determining the final diagnosis of an infant with a positive newborn screen; American
College of Medical Genetics.
Services
Newborn Screening Programs
We currently have no Newborn Screening Programs service providers listed; search our Services database for related services.
Pediatric Hematology/Oncology
See all Pediatric Hematology/Oncology services providers (14) in our database.
For other services related to this condition, browse our Services categories or search our database.
Helpful Articles
PubMed search for sickle cell disease and neonatal screening, last 2 years.
Yawn BP, Buchanan GR, Afenyi-Annan AN, Ballas SK, Hassell KL, James AH, Jordan L, Lanzkron SM, Lottenberg R, Savage WJ, Tanabe
PJ, Ware RE, Murad MH, Goldsmith JC, Ortiz E, Fulwood R, Horton A, John-Sowah J.
Management of sickle cell disease: summary of the 2014 evidence-based report by expert panel members.
JAMA.
2014;312(10):1033-48.
PubMed abstract / Full Text