Sickle Cell Disease

Other Names

Hemoglobin SC disease (HbSC)

Diagnosis Coding

D57.1, sickle-cell disease without crisis

Disorder Category

A hemoglobin disorder



Presence of Hemoglobin F, S, C without Hemoglobin A

Tested By

Isoelectric focusing (IEF) (in Utah)


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.


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.


Autosomal recessive

Prenatal Testing

Genetic diagnosis by amniocentesis, CVS, or fetal blood sampling.

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
If not treated appropriately, patients may experience:
  • 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

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.


Information & Support

For Professionals

Sickle Cell Disease (GeneReviews)
Detailed information addressing clinical characteristics, diagnosis/testing, management, genetic counseling, and molecular pathogenesis; from the University of Washington and the National Library of Medicine.

Sickle Cell Anemia (OMIM)
Information about clinical features, diagnosis, management, and molecular and population genetics; Online Mendelian Inheritance in Man, authored and edited at the McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine

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.


ACT Sheet for Sickle Cell Disease (ACMG) (PDF Document 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 New Mexico (NM)

Genetics clinic services throughout the US can be found through the Genetics Clinic Services Search Engine (ACMG).
Genetics clinic services throughout the US can be found through the Genetics Clinic Services Search Engine (ACMG).

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.


Sickle Cell Disease (
Studies looking at better understanding, diagnosing, and treating this condition; from the National Library of Medicine.

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.

American Society of Hematology.
American Society of Hematology Clinical Practice Guidelines on Sickle Cell Disease.

Authors & Reviewers

Initial publication: March 2007; last update/revision: March 2008
Current Authors and Reviewers:
Author: Nicola Longo, MD, Ph.D.