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Hemoglobin D disease

MedGen UID:
124416
•Concept ID:
C0272080
•
Disease or Syndrome
Synonyms: Hb-D disease; Hemoglobin D Disease; hemoglobin D disease; Hemoglobin D-D disease; Homozygous for Hb D; Sickle Cell-Hemoglobin D Disease
SNOMED CT: Hemoglobin D disease (66729008); Hemoglobin D-D disease (66729008); Homozygous for Hb D (66729008)
 
Monarch Initiative: MONDO:0019537
Orphanet: ORPHA90039

Definition

Hemoglobin D disease(HbD) is a hemoglobinopathy characterized by production of abnormal variant hemoglobin known as hemoglobin D, with no or mild clinical manifestations (splenomegaly, very mild anemia). [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Hemoglobin D disease
Follow this link to review classifications for Hemoglobin D disease in Orphanet.

Professional guidelines

PubMed

Newborn screening for sickle cell anemia in Antalya, Türkiye.
Öztürk Z, Küpesiz OA, Karasu G, Uygun V, Oygür N, Yeşilipek MA
Turk J Pediatr 2023;65(6):959-963. doi: 10.24953/turkjped.2023.17. PMID: 38204310
Voxelotor Treatment Interferes With Quantitative and Qualitative Hemoglobin Variant Analysis in Multiple Sickle Cell Disease Genotypes.
Rutherford-Parker NJ, Campbell ST, Colby JM, Shajani-Yi Z
Am J Clin Pathol 2020 Oct 13;154(5):627-634. doi: 10.1093/ajcp/aqaa067. PMID: 32561909
Newborn screening for sickling and other haemoglobin disorders using tandem mass spectrometry: A pilot study of methodology in laboratories in England.
Daniel YA, Henthorn J
J Med Screen 2016 Dec;23(4):175-178. Epub 2016 Mar 9 doi: 10.1177/0969141316631008. PMID: 26965059

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

A Case of COVID-19 in a Patient with Asymptomatic Hemoglobin D Thalassemia and Glucose-6-Phosphate Dehydrogenase Deficiency.
Sasi S, Yassin MA, Nair AP, Al Maslamani MS
Am J Case Rep 2020 Jul 22;21:e925788. doi: 10.12659/AJCR.925788. PMID: 32697769Free PMC Article
Sickle cell hemoglobin D disease: first reported case in Iran.
Aflatouni MM, Malek M
Acta Med Iran 1978;21(2):153-60. PMID: 754514
The diagnosis of homozygous hemoglobin D disease.
Ringelhann B
Am J Clin Pathol 1972 Aug;58(2):224-5. doi: 10.1093/ajcp/58.2.224b. PMID: 5047609
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

A Case of COVID-19 in a Patient with Asymptomatic Hemoglobin D Thalassemia and Glucose-6-Phosphate Dehydrogenase Deficiency.
Sasi S, Yassin MA, Nair AP, Al Maslamani MS
Am J Case Rep 2020 Jul 22;21:e925788. doi: 10.12659/AJCR.925788. PMID: 32697769Free PMC Article
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

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

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    Reviews

    Related information

    • ClinVar
      Related medical variations
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

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