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Screening & Prevention >> Newborn Screening >> Hemoglobinopathies >> Sickle cell disease

Sickle cell disease

Disorder Category

a hemoglobin disorder

Screening

Finding

presence of Hemoglobin F, S, C without Hemoglobin A

Tested By

isoelectric focusing (IEF) (in Utah)

Names

Sickle cell disease

Hemoglobin SC disease (HbSC)

ICD-9

282.60, 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.

Inheritance

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; and
  • stroke.


If not treated appropriately, patients may experience:
  • spleen damage and infections;
  • eye damage and blindness;
  • growth retardation; and
  • delayed maturation.

Follow-up on positive screening test

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.

Specialty Care Management

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

Links

For Professionals

ACT Sheet for Sickle cell disease from ACMG (pdf 119kb)
Developed by the American College of Medical Genetics (ACMG), includes recommended responses to positive newborn screening test results, diagnostic evaluation, clinical expectations, and sources of additional information. See the ACMG ACT Sheets and Confirmatory Algorithms (link elsewhere on this page) for more info and sheets on other conditions.

ACMG ACT Sheets and Confirmatory Algorithms
The American College of Medical Genetics (ACMG) has developed ACTion (ACT) Sheets and algorithms for responding to positive newborn screening test results. This page contains a table with links to all of the ACT Sheets and related algorithms.

Sickle cell disease, OMIM
Extensive review of the literature, including clinical features and gene therapy, from the Online Mendelian Inheritance in Man site, hosted by Johns Hopkins University, providing technical information for providers on genetic disorders, links to MEDLINE, and links to other scientific information and sites.

Sickle cell disease guidelines, Sickle Cell Disease Care Consortium (pdf 1.2MB)
A 37 page detailed practice guideline including diagnosis, comprehensive care, and management of acute and chronic compications, 2001; from the Sickle Cell Disease Care Consortium, supported by Mountain States Genetics Network, Texas Genetics Network, Texas Newborn Screening Hemoglobinopathy Grant (Texas Department of Health), and the federal Maternal and Child Health Bureau.

Sickle cell disease, NHLBI Guideline (pdf 832kb)
"The Management of Sickle Cell Disease", a 206 page practice guideline from the National Institutes of Health, National Heart, Lung, and Blood Institute; revised 2002.

For Parents

Sickle cell disease, Genetics Home Reference
Brief review with extensive list of links, aimed at patients and families from the National Library of Medicine's Genetics Home Reference site.

Sickle cell disease, parent info, Nebraska Newborn Screening Program (pdf 28kb)
Single page information sheet for parents whose child has a positive screening test.

The Sickle Cell Information Center
Hosted by Grady Health System/Morehouse School of Medicine, this site provides information for parents, providers, students, legislators, and the public; clinical guidelines, protocols, and PDA tools; educational presentations and materials; news; links to web sites for kids; and links to many other resources and organizations.

Sickle cell disease, MedlinePlus
From the MedlinePlus site, hosted by the National Library of Medicine and National Institutes of Health, providing access to extensive information about Sickle Cell Disease; includes pictures of sickle cells.

Services

Newborn Screening Programs

Utah Newborn Screening Program, more info...
44 Mario Capecchi Drive
Salt Lake City, UT84114
Phone: 801-584-8256
Fax: 801-536-0966
http://health.utah.gov/newbornscreening

Pediatric Condition-Specialty Clinics

See all Pediatric Condition-Specialty Clinics services providers (8) in our database.

Pediatric Hematology/Oncology

See all Pediatric Hematology/Oncology services providers (2) in our database.

For other services related to this condition, browse our Services categories or search our database.

Helpful Articles

PubMed search for articles on sickle cell disease in the last 5 years.

Authors

Reviewing Author: Nicola Longo MD, PhD, 3/2007
Compiled and edited by: Alfred Romeo RN, PhD, 3/2007
Content Last Updated: 3/2008
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