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Sickle cell-hemoglobin D disease

MedGen UID:
452366
•Concept ID:
C0272084
•
Disease or Syndrome
Synonyms: Hemoglobin SD; Sickle cell-hemoglobin d disease syndrome
SNOMED CT: Sickle cell hemoglobin D (25472008); Sickle cell-hemoglobin D disease (25472008); Hemoglobin S-D disease (25472008); HbS-HbD disease (25472008); Double heterozygous for Hb S + Hb D Punjab (25472008); Hemoglobin S/D Punjab disease (25472008); Sickle cell anemia with hemoglobin D disease (25472008)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0016670
Orphanet: ORPHA251370

Definition

A rare, genetic hemoglobinopathy characterized by all the characteristics of sickle cell anemia (SCA). Clinical course is similar to SCA, including acute episodes of pain, splenic infarction and splenic sequestration crisis, vaso-occlusive crisis, acute chest syndrome, ischemic brain injury, osteomyelitis and avascular bone necrosis. The genotype is characterized by an HbS allele in combination with the HbD variant, beta121Glu>Gln. [from ORDO]

Professional guidelines

PubMed

Incidence of haemoglobinopathies detected through neonatal screening in the United Arab Emirates.
Al Hosani H, Salah M, Osman HM, Farag HM, Anvery SM
East Mediterr Health J 2005 May;11(3):300-7. PMID: 16602448
An automated method of differential red blood cell classification with application to the diagnosis of anemia.
Bacus JW, Weens JH
J Histochem Cytochem 1977 Jul;25(7):614-32. doi: 10.1177/25.7.330716. PMID: 330716

Curated

American College of Medical Genetics and Genomics, Transition to Adult Health Care ACT Sheet, Sickle Cell Disease, 2012

Recent clinical studies

Etiology

First report of successful stem cell transplantation in a patient with sickle cell hemoglobin D disease.
Hamidieh AA, Jalili M, Khojasteh O, Ghavamzadeh A
J Pediatr Hematol Oncol 2010 Jul;32(5):397-9. doi: 10.1097/MPH.0b013e3181df614b. PMID: 20502357

Diagnosis

Sickle cell hemoglobin D disease: first reported case in Iran.
Aflatouni MM, Malek M
Acta Med Iran 1978;21(2):153-60. PMID: 754514
SICKLE CELL HEMOGLOBIN D DISEASE IN A NEGRO COLOMBIAN PATIENT.
RESTREPO AM, LONDONO OG
Ann Intern Med 1965 Jun;62:1301-6. doi: 10.7326/0003-4819-62-6-1301. PMID: 14295513

Prognosis

First report of successful stem cell transplantation in a patient with sickle cell hemoglobin D disease.
Hamidieh AA, Jalili M, Khojasteh O, Ghavamzadeh A
J Pediatr Hematol Oncol 2010 Jul;32(5):397-9. doi: 10.1097/MPH.0b013e3181df614b. PMID: 20502357

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    Curated

    • ACMG ACT, 2012
      American College of Medical Genetics and Genomics, Transition to Adult Health Care ACT Sheet, Sickle Cell Disease, 2012

    Reviews

    Related information

    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • PMC Articles
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