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.Incidence
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): Newborn Screening Services (see RI providers [1]).
- For evaluation and ongoing collaborative management, consult the following service(s): Pediatric Hematology/Oncology (see RI providers [9]),
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.
- See the Portal's Sickle Cell Disease for more detail.
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.
Genetics in Primary Care Institute (AAP)
Contains health supervision guidelines and other useful resources for the care of children with genetic disorders; American
Academy of Pediatrics.
For Parents and Patients
Sickle Cell Disease (MedlinePlus)
Overview of sickle cell disease plus links to many other relevant sources of information and support for patients and families;
from the 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.
Sickle Cell Disease Association of America
The mission of this nonprofit is to improve the quality of health, life, and services for individuals, families, and communities
affected by sickle cell disease and related conditions while promoting the search for a cure.
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 for Patients & Families in Rhode Island (RI)
| Service Categories | # of providers* in: | RI | NW | Other states (5) (show) | | ID | MT | NM | NV | UT |
|---|---|---|---|---|---|---|---|---|---|---|
| Newborn Screening Services | 1 | 1 | 22 | 4 | 2 | 2 | 3 | |||
| Pediatric Hematology/Oncology | 9 | 3 | 10 | 6 | 5 | 2 | ||||
For services not listed above, browse our Services categories or search our database.
* number of provider listings may vary by how states categorize services, whether providers are listed by organization or individual, how services are organized in the state, and other factors; Nationwide (NW) providers are generally limited to web-based services, provider locator services, and organizations that serve children from across the nation.
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
Subscription required for full text.