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hemoglobinopathy
Classification:
1) hereditary
a) mutations in the coding sequence for hemoglobin genes
- hemoglobin-alpha mutations
- hemoglobin-beta mutations
b) thalassemias
- alpha thalassemia
- beta thalassemia
- hereditary persistence of fetal hemoglobin
c) methemoglobinemia due to NADH diaphorase-1 (methemoglobin reductase) deficiency
2) acquired
- toxic sulfhemoglobinemia
- toxic methemoglobinemia
- toxic carboxyhemoglobinemia
Laboratory:
- see ARUP consult [2]
Related
hemoglobin
hemoglobin-variant
Specific
hemoglobin C disease
hemoglobin C trait
hemoglobin SC disease
sickle cell (hemoglobin SS) disease
sickle cell trait; hemoglobin S trait
thalassemia
General
blood protein disorder
erythrocyte disorder
genetic disease of the blood/bone marrow
References
- Harrison's Principles of Internal Medicine, 14th ed.
Fauci et al (eds), McGraw-Hill Inc. NY, 1998, pg 647-50
- ARUP Consult: Hemoglobinopathies
The Physician's Guide to Laboratory Test Selection & Interpretation
https://www.arupconsult.com/content/hemoglobinopathies
- Hemoglobinopathies Testing Algorithm
https://arupconsult.com/algorithm/hemoglobinopathies-testing-algorithm
- ARUP Consult: Unstable Hemoglobinopathies
The Physician's Guide to Laboratory Test Selection & Interpretation
https://arupconsult.com/content/unstable-hemoglobinopathies
- Ryan K, Bain BJ, Worthington D et al
British Committee for Standards in Haematology.
Significant haemoglobinopathies: guidelines for screening
and diagnosis.
Br J Haematol 2010 Apr;149(1):35-49. [19 references]
PMID: 20067565
corresponding NGC guideline withdrawn Dec 2015
- Newborn Screening for Sickle Cell Disease and Other Hemoglobinopathies
http://consensus.nih.gov/cons/061/061_intro.htm