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Hb F,S - Hb SS-disease (sickle cell anemia) - Condition Details

Hb SS-disease, also known as sickle cell anemia, is the most common disorder affecting hemoglobin. This condition is a form of sickle cell disease. People with this disorder have atypical hemoglobin molecules called hemoglobin S, which can distort red blood cells into a sickle (crescent) shape. Characteristic features of sickle cell anemia include anemia, repeated infections, and periodic episodes of pain and organ damage. Sickle cell anemia is caused by a particular mutation in the HBB gene; it has an autosomal recessive pattern of inheritance.

Names and Codes

Condition:1Hb SS-disease (sickle cell anemia)
Abbreviation:1Hb F,S
127040003Hb SS disease
UMLS CUI:4C0002895
ICD-9-CM Code:5
282.60Sickle-cell disease, unspecified
ICD-10-CM Code:6
D57.1Sickle-cell disease without crisis

Affected Protein Names and Codes

Enzyme Commission Number:7
UniProt Number:8
P68871External Web Site PolicyHemoglobin subunit beta

Analytes or Measurements

These measurements are associated with the condition:

LOINC Long Common Name9Analyte
Short Name10
Fifth most predominant hemoglobin in Dried blood spot5th most predominant Hb DBS64121-7Answer list
Fourth most predominant hemoglobin in Dried blood spot4th most predominant Hb DBS64120-9Answer list
Hemoglobin disorders newborn screen interpretation 46740-7Answer list
Hemoglobin observations newborn screening panelHb observations NBS pnl DBS64116-7 
Hemoglobins that can be presumptively identified based on available controls in Dried blood spotHb pres ID based on avail contr DBS64122-5Answer list
Most predominant hemoglobin in Dried blood spotMost predominant Hb DBS64117-5Answer list
Second most predominant hemoglobin in Dried blood spot2nd most predominant Hb DBS64118-3Answer list
Third most predominant hemoglobin in Dried blood spot3rd most predominant Hb DBS64119-1Answer list

More Information

Additional information is available from Genetics Home Reference13 and from the Online Mendelian Inheritance in Man (OMIM®)14:



Condition Name and Abbreviation — curated by the NLM and selected from among the names used by the Advisory Committee on Heritable Disorders in Newborns and Children (Committee), National Newborn Screening Information System (NNSIS), the American College of Medical Genetics (ACMG), the HHS Office of the National Coordinator for Health Information Technology (ONC)/American Health Information Community (AHIC) Personalized Health Care Work Group, and input from the newborn screening community.


Category — based on the U.S. Department of Health and Human Services (HHS) Recommended Uniform Screening Panel. Conditions designated as "core" should be included in every newborn screening program, and "secondary" conditions are some of the disorders that may be detected during screening for a core disorder. Conditions classified as "other" are those that are screened for by some states but are not part of the Recommended Uniform Screening Panel.


SNOMED CT® CodeSystematized Nomenclature of Medicine — Clinical Terms code is assigned by the International Health Terminology Standards Development Organisation (IHTSDO). SNOMED CT is a concept-oriented clinical terminology that has been designated as a U.S. standard for electronic health information exchange. The Newborn Screening Coding and Terminology Guide uses some codes from the US Extension to SNOMED CT.


UMLS CUI — a concept unique identifier (CUI) assigned to every concept in the Unified Medical Language System (UMLS®).


ICD-9-CM CodeInternational Classification of Diseases, Ninth Revision, Clinical Modification code is assigned to diagnoses associated with hospital utilization in the U.S. It is a current US standard for use in administrative healthcare transactions. Although ICD-9-CM codes are fairly specific, in certain cases, the same ICD-9-CM code might apply to several disorders in the same group (e.g. amino acid disorders).


ICD-10-CM CodeInternational Classification of Diseases, Tenth Revision, Clinical Modification code. Although ICD-10-CM codes are fairly specific, in certain cases, the same ICD-10-CM code might apply to multiple related disorders.


Enzyme Commission (EC) Number — a unique identifier for the affected enzyme (if the affected protein is an enzyme); the EC number is assigned by the Recommendations of the Nomenclature Committee of the International Union of Biochemistry and Molecular Biology on the Nomenclature and Classification of Enzymes by the Reactions they CatalyseExternal Web Site Policy.


UniProt Number — a unique identifier assigned to all proteins, including enzymes, hemoglobin subunits, and immunoglobulin chains. The UniProt database is maintained by the Universal Protein ResourceExternal Web Site Policy, an international collaboration.


LOINC Long Common Name — derived by the Logical Observation Identifiers Names and CodesExternal Web Site Policy (LOINC®) Committee from the measurement's formal name by using conventional names for analytes and procedures. The long common name eliminates the parts of the formal name that are not needed to distinguish the test from related tests.


Analyte Short Name — an abbreviation for the analyte.


LOINC Number — the unique and permanent code assigned by the Logical Observation Identifiers Names and CodesExternal Web Site Policy (LOINC®) Committee to identify the test measurement. LOINC codes are unique for different test methods and different units of reporting to enable interoperability and comparison of results from different labs. LOINC is a U.S. government standard for electronic health information exchange of laboratory tests and other measurements in Interoperability Specifications produced by the Healthcare Information Technology Standards Panel (HITSP).


Units — what is being counted or measured, using the Unified Code for Units of MeasureExternal Web Site Policy (UCUM). Ratios whose units fully cancel each other are indicated by {Ratio}. UCUM is the US standard for reporting units in laboratory messages. Results that are not quantitative have either a link to the specific LOINC answer list for that analyte or appropriate text (such as "Pos or Neg" or "Specific alleles").


Genetics Home Reference — the National Library of Medicine's Web site for consumer-friendly information about genetic conditions and the genes or chromosomes related to those conditions. Visit Genetics Home Reference at


OMIMOnline Mendelian Inheritance in Man®External Web Site Policy is a comprehensive resource about human genes and genetic diseases. It focuses primarily on the relationship between genotype and phenotype. It is currently maintained by Johns Hopkins University.

Record created: December 19, 2008
Record last updated: January 19, 2016