Home > Newborn Disorders > Sickle cell disease
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; 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
- 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): Utah Newborn Screening Program, (801-584-8256); See also Services below
- For evaluation and ongoing collaborative management, consult the following service(s): see all Pediatric Hematology/Oncology services providers (1) in our database,
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
ACT Sheet for sickle cell disease (ACMG)
(
117 KB)
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.
ACT Sheets and Confirmatory Algorithms (ACMG)
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
()
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
()
"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.
Hemoglobinopathies
From the Utah Newborn Screening Program, this page lists 25 English and Spanish documents for providers and families on different
hemoglobinopathies including sickle cell; sickle cell trait (carrier); Hb C; Hb D; Hb E; Hb C, D, or E trait (carrier); FABarts
- alpha thalassemia syndrome; unidentified hemoglobin trait (carrier); and general information about hemoglobin screening.
For Parents and Patients
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 hemoglobin C disease, parent info, Nebraska Newborn Screening Program
( 21 KB)
Single page information sheet for parents whose child has a positive screening test for sickle cell hemoglobin C disease.
Sickle cell trait, parent info, Nebraska Newborn Screening Program
( 26 KB)
Single page information sheet for parents whose child has a positive screening test for sickle cell trait.
Sickle cell trait (Spanish) Rasgo de celula falciforme
( 20 KB)
Spanish version of a single page information sheet for parents whose child has a positive screening test for sickle cell trait.
Sickle cell beta thalassemia, parent info, Nebraska Newborn Screening Program
( 22 KB)
Single page information sheet for parents whose child has a positive screening test for sickle cell beta thalassemia.
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 National Library of Medicine, providing access to extensive information about sickle cell disease; includes pictures
of sickle cells.
Newborn Screening Disorder Information for Families
From the Utah Newborn Screening Program, this page lists 24 documents for families on different disorders that are screened
including cystic fibrosis; biotinidase; galactosemia; organic acid disorders; amino acid disorders including PKU; fatty acid
oxidation disorders; congenital adrenal hyperplasia; congenital hypothyroidism; sickle cell; sickle cell trait (carrier);
Hb C; Hb D; Hb E; Hb C, D, or E trait (carrier); FABarts - alpha thalassemia syndrome; and unidentified hemoglobin trait (carrier).
Patient Education
What is Sickle Cell Disease? Genetic Science Learning Center - University of Utah
A brief educational overview of the genetics of sickle cell disease from the Genetic Science Learning Center at the University
of Utah.
Services
Newborn Screening Programs
Utah Newborn Screening Program,
more info...
44 Mario Capecchi Drive
Salt Lake City, UT 84114
Phone: 801-584-8256
Fax: 801-536-0966
http://health.utah.gov/newbornscreening
Pediatric Hematology/Oncology
See all Pediatric Hematology/Oncology services providers (1) in our database.
For other services related to this condition, browse our Services categories or search our database.
Authors
| Reviewing Author: | Nicola Longo MD, PhD, 3/2007 |
| Compiled and edited by: | Alfred Romeo RN, PhD, 3/2007 |
| Content Last Updated: | 3/2008 |