raremaprare-disease reference indexOrphadata 2026-06-23 · HPO 2026-09-01
ORPHA:700085

Sickle cell disease due to hemoglobin S and a non-S/non-C hemoglobin variant

Synonyms: Sickle cell disease due to HbS and a non-HbS/non-HbC variant

Type
Disease
Group
Disorder
Status
active

Orphadata ships no English definition for this code.

1

Names in Orphadata languages

9 of 12 languages
LangNameSynonyms
enSickle cell disease due to hemoglobin S and a non-S/non-C hemoglobin variantSickle cell disease due to HbS and a non-HbS/non-HbC variant
frDrépanocytose due à l'hémoglobine S et à un variant de l'hémoglobine non-S et non-CDrépanocytose due à l'HbS et à un variant non-HbS/non-HbC
deSichelzellkrankheit durch Hämoglobin S und eine Nicht-S/Nicht-C-HämoglobinvarianteSichelzellkrankheit durch HbS und eine non-HbS/non-HbC-Variante
esEnfermedad falciforme por hemoglobina S y por una variante de hemoglobina no S/no CAnemia de células falciformes por HbS y una variante no HbS/no HbC · Anemia de células falciformes por hemoglobina S y por una variante de hemoglobina no S/no C · Anemia falciforme por HbS y una variante no HbS/no HbC
itAnemia a cellule falciformi correlata all'emoglobina S e ad una mutazione dell'emoglobina non-S/non-CAnemia a cellule falciformi correlata a HbS e ad una mutazione non-HbS/non-HbC
nlSikkelcelziekte door hemoglobine S en een niet-S/niet-C hemoglobinevariantSikkelcelziekte door HbS en een niet-HbS/niet-HbC-variant
ptSickle cell disease due to hemoglobin S and a non-S/non-C hemoglobin variant
plSickle cell disease due to hemoglobin S and a non-S/non-C hemoglobin variant= en
csSickle cell disease due to hemoglobin S and a non-S/non-C hemoglobin variant= en
2

Cross-references

qualifier = Orphanet mapping relation
SourceCodeQualifierICD relationValidation
ICD-10D57.2NTBTattributedvalidated
ICD-113A51.YNTBTattributedvalidated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

3

Classification

Preferential parent (Orphanet linearisation):

Parents in the classifications (1):

Children (5):

4

Genes

0 direct · 6 via subtypes

Orphanet records no gene directly on this code.

Recorded by Orphanet on subtypes of this disorder:

GeneSubtypeAssociationStatusHGNCEnsemblOMIMLocusNameSource of validation
HBBORPHA:251370Sickle cell S-D Punjab diseaseDisease-causing germline mutation(s) inAssessedHGNC:4827ENSG0000024473414190011p15.4hemoglobin subunit beta20301551[PMID]
HBBORPHA:251375Sickle cell S-E diseaseDisease-causing germline mutation(s) inAssessedHGNC:4827ENSG0000024473414190011p15.4hemoglobin subunit beta20301551[PMID]
HBBORPHA:699822Sickle cell S-Lepore diseaseDisease-causing germline mutation(s) inAssessedHGNC:4827ENSG0000024473414190011p15.4hemoglobin subunit beta34334973[PMID]_20022270[PMID]
HBBORPHA:700090Sickle cell S-O Arab diseaseDisease-causing germline mutation(s) inAssessedHGNC:4827ENSG0000024473414190011p15.4hemoglobin subunit beta32595482[PMID]
HBBORPHA:700107Sickle cell S-other specified hemoglobin variantDisease-causing germline mutation(s) inAssessedHGNC:4827ENSG0000024473414190011p15.4hemoglobin subunit beta23388674[PMID]_34113458[PMID]
HBDORPHA:699822Sickle cell S-Lepore diseaseDisease-causing germline mutation(s) inAssessedHGNC:4829ENSG0000022360914200011p15.4hemoglobin subunit delta34334973[PMID]_20022270[PMID]
5

Prevalence and incidence

0 records

No prevalence record in this release.

6

HPO phenotypes

Orphanet has no HPO annotation for this code in this release.

7

Sources for this card