hemoglobinopathy
Sign in to saveAlso known as hemoglobinopathies, Hemoglobinopathies / Iron Metabolism
Hemoglobinopathy is the medical term for a group of inherited blood disorders involving the hemoglobin, the major protein of red blood cells. They are generally single-gene disorders and, in most cases, they are inherited as autosomal recessive traits.
Key facts
- Medical condition (new).name
- Hemoglobinopathy
- Medical condition (new).synonyms
- Hemoglobinopathies
- Medical condition (new).image
- File:Sickle cells.jpg
- Medical condition (new).caption
- Red blood cells from a person with sickle cell disease, illustrating abnormal 'sickle' shaped red blood cells - key characteristic of the disease.
- Medical condition (new).symptoms
- Chronic anemia
- Medical condition (new).complications
- Enlarged spleen, iron overload, death
- Medical condition (new).onset
- During fetal development or very early infancy
- Medical condition (new).types
- Relatively frequent: sickle cell disease, alpha thalassemia and beta thalassemia
- Medical condition (new).causes
- Usually inherited
- Medical condition (new).diagnosis
- Blood smear, ferritin test, hemoglobin electrophoresis, DNA sequencing
- Medical condition (new).differential
- Iron deficiency anemia
- Medical condition (new).prevention
- Genetic counselling of potential parents, termination of pregnancy
- Medical condition (new).treatment
- Blood transfusion, iron chelation, hematopoietic stem cell transplant
via Wikipedia infobox
Research
57,987 papers- [Hemoglobinopathy].Nihon rinsho. Japanese journal of clinical medicine · 1995
- Hemoglobinopathy in India.Clinica chimica acta; international journal of clinical chemistry · 2015
- Prenatal Hemoglobinopathy Evaluation.Clinical chemistry · 2021
- Genome editing coming of age for hemoglobinopathy.Molecular therapy : the journal of the American Society of Gene Therapy · 2023
- Distribution of Hemoglobinopathy in Nepalese Population.Journal of Nepal Health Research Council · 2020
via PubMed
Wikidata facts
Show 3 more facts
- NCI Thesaurus ID
- C3092
- exact match
- www.orpha.net/ORDO/Orphanet_68364
- ICD-9-CM
- 282.7
via Wikidata · CC0
~11 min read
Article
14 sectionsContents
- Hemoglobin functions
- Hemoglobin structural biology
- Classification of hemoglobinopathies
- A) Qualitative
- Structural abnormalities
- Chemical abnormalities
- B) Quantitative
- Production abnormalities
- Combination hemoglobinopathies
- Hemoglobin variants
- Normal hemoglobins
- Relatively common abnormal hemoglobins
- Evolutionary advantage
- References
Hemoglobinopathy is the medical term for a group of inherited blood disorders involving the hemoglobin, the major protein of red blood cells. They are generally single-gene disorders and, in most cases, they are inherited as autosomal recessive traits.
There are two main groups: abnormal structural hemoglobin variants caused by mutations in the hemoglobin genes, and the thalassemias, which are caused by an underproduction of otherwise normal hemoglobin molecules. The main structural hemoglobin variants are HbS, HbE and HbC. The main types of thalassemia are alpha-thalassemia and beta thalassemia.