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NB-Test-Sickle Cell Anemia

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Sickle Cell Anemia

Guidance for primary care clinicians receiving a positive newborn screen result

Other Names

Hemoglobin SC disease (HbSC)Hemoglobin SS disease (HbSS)Sickle-Beta-Thalassemia (HbS/B0, HbS/B+)Sickle Cell Anemia

Disorder Category

Hemoglobin disorder

Screening

Abnormal Finding

F-S, F-S-C, or F-S-A pattern on newborn screening (most common genotypes) - other variants exist (F-S-Barts, F-S-E).

Tested By

Isoelectric focusing (IEF); high-pressure liquid chromatography (Utah newborn screen)

Description

In sickle cell disease, hemoglobin S (HbS) is an abnormal hemoglobin that results from a point mutation in the beta-globin gene on chromosome 11 that causes the substitution of a valine for glutamic acid as the sixth amino acid of the beta-globin chain. When inherited in the homozygous state (HbSS), or compound heterozygous with other beta-globin mutations (such as hemoglobin C or beta-thalassemia), states of deoxygenation, dehydration, acidosis, stress, and temperature changes cause hemoglobin S to polymerize, causing red blood cells to deform into a sickle shape. Red blood cell sickling causes anemia, premature RBC breakdown (hemolysis), intermittent episodes of microvascular occlusion, causing ischemic pain, acute and chronic organ dysfunction, and increased risk of infection. Many variant forms exist. Disease severity is affected by the genotype and modifiers of HbS polymerization (such as increased fetal hemoglobin levels).

Clinical Characteristics

Symptoms and symptom severity of sickle cell disease vary by individual and genotype. Symptom 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-occlusion)
  • Auto-splenectomy - functional asplenia
  • Stroke
  • 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
  • Retinopathy
If not treated appropriately, patients may experience:
  • Acute complications of vaso-occlusive crisis, such as acute chest syndrome and stroke, and increased susceptibility to infections from asplenia may be life-threatening

Incidence

Sickle cell disease affects about 100,000 persons in the United States. [Hassell: 2010] The gene for Hb S is present in all racial and ethnic groups affecting males and females equally. However, it is more prevalent in people of African, Mediterranean, Middle Eastern, Southeast Asian, Caribbean, and Central and South American descent. The incidence in African Americans of sickle trait is 1:14, and sickle cell disease is 1:396.[Hassell: 2010] [[Lorey: 1996]]

Inheritance

Autosomal recessive

Primary Care Management

Next Steps After a Positive Screen

Confirming the Diagnosis

  • To confirm the diagnosis of Pompe disease, work with Newborn Screening Services (see NW providers [1]) and Pediatric Hematology/Oncology (see NW providers [0]).
  • Follow-up testing will include hemoglobin electrophoresis for hemoglobin separation, high-performance liquid chromatography to confirm screening results. DNA testing to determine genotype.

If the Diagnosis is Confirmed

  • For evaluation, ongoing collaborative management, and prevention of complications, consult Pediatric Hematology/Oncology (see NW providers [0]). Comprehensive sickle cell care requires long-term follow-up care and access to multidisciplinary teams.
  • Educate the family about the need for emergent care when the infant sickle cell has a fever and the importance of ongoing hematology follow-up for long-term care.
  • Educate the family regarding the need for current childhood immunizations, including additional immunizations for functional asplenia.
  • Prophylactic penicillin, red blood cell transfusions, hydroxyurea, 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 crises.
    • Newer therapies, such as bone marrow transplant and gene therapy, may be considered for severely affected children after consultation with a specialist.
    • Assist in management, particularly with immunizations, developmental and educational interventions, and psychosocial assistance.

Services for Patients & Families in Idaho (ID)

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.

Resources

Information & Support

For Professionals

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.

For Parents and Patients

Missing link with id: 123

Services for Patients & Families in Idaho (ID)

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

Missing link with id: 133

McKusick VA, Kelly J, Bellus GA, et al.
Neurofibromatosis, Type 1; NF1.
(2004) http://omim.org/entry/162200. In: Online Mendelian Inheritance in Man (OMIM). Copyright 1966-2004 Johns Hopkins University. Accessed on 1/22/2019.
Extensive review of clinical and biochemical features, inheritance, cytogenetics, mapping, molecular genetics, diagnosis, population genetics, history, and allelic variants.

Lorey FW, Arnopp J, Cunningham GC.
Distribution of hemoglobinopathy variants by ethnicity in a multiethnic state.
Genet Epidemiol. 1996;13(5):501-12. PubMed abstract

Patient Education

Let's Talk About... Clean Intermittent Catheterization for Girls (Spanish & English)

Resources for Parents

Hearing Loss (MedlinePlus Encyclopedia) Teens with Sickle Cell Disease Moving to Adult Care (St. Jude Children’s Research Hospital) (PDF Document 456 KB)

National & Local Support

Utah Parent Center The National Lekotek Center

Helpful Articles

[Ware: 2016]

Books for Patients & Families

[Corbet: 2002]

Studies

Authors & Reviewers

Initial publication: November 2019; last update/revision: February 2023
Current Authors and Reviewers:
Author: Jessica Meznarich, MD
Contributing Author: Jay Berry, MD
Senior Author: Dale-Marie Herring
Reviewer: Chuck Norlin, MD
Authoring history
2020: first version: John C. Carey, MDA
AAuthor; CAContributing Author; SASenior Author; RReviewer

Page Bibliography

Hassell KL.
Population estimates of sickle cell disease in the U.S.
Am J Prev Med. 2010;38(4 Suppl):S512-21. PubMed abstract

Lorey FW, Arnopp J, Cunningham GC.
Distribution of hemoglobinopathy variants by ethnicity in a multiethnic state.
Genet Epidemiol. 1996;13(5):501-12. PubMed abstract