thalassemia

Also known as thalassemia Hb-S disease with crisis, thalassemia Hb-S disease without crisis, sickle-cell thalassemia with crisis, sickle-cell thalassemia without crisis, talasémie

Thalassemias are a group of inherited blood disorders that manifest as the production of reduced hemoglobin. Symptoms depend on the type of thalassemia and can vary from none to severe, including death. Often there is mild-to-severe anemia (low red blood cells or hemoglobin), as thalassemia can affect the production of red blood cells and also affect how long the red blood cells live. Symptoms include tiredness, pallor, bone problems, an enlarged spleen, jaundice, pulmonary hypertension, and dark urine. A child's growth and development may be slower than normal.

AI overview

Thalassemia is an inherited blood disorder that reduces the body's production of hemoglobin, the protein in red blood cells that carries oxygen, leading to anemia and symptoms ranging from tiredness and paleness to severe complications like bone problems and organ enlargement. The severity varies widely depending on the type of thalassemia, and it can affect how quickly children grow and develop, though some people have no symptoms at all.

AI-generated from the Wikipedia summary — may contain errors.

Key facts

Medical condition (new).name: Thalassemia
Medical condition (new).image: Delta Beta Thalassemia.jpg
Medical condition (new).caption: Peripheral blood film from a person with delta-beta thalassemia
Medical condition (new).field: Hematology, medical genetics
Medical condition (new).synonyms: Thalassaemia, Mediterranean anemia
Medical condition (new).symptoms: Feeling tired, pale skin, enlarged spleen, yellowish skin, dark urine
Medical condition (new).cause: Genetic (autosomal recessive)
Medical condition (new).diagnosis: Blood tests, genetic tests
Medical condition (new).treatment: Blood transfusions, iron chelation, folic acid
Medical condition (new).frequency: 280 million (2015)
Medical condition (new).deaths: 16,800 (2015)

via Wikipedia infobox

Research

35,506 papers

Thalassemia and related hemoglobinopathies.ReviewIndian journal of pediatrics · 2005Sarnaik SADOI: 10.1007/BF02724015
Thalassaemia.ReviewLancet (London, England) · 2018Taher AT, Weatherall DJ, Cappellini MDDOI: 10.1016/S0140-6736(17)31822-6
Thalassemia: pathophysiology of red cell changes.ReviewAnnual review of medicine · 1994Schrier SLDOI: 10.1146/annurev.med.45.1.211
The α-thalassemias.ReviewThe New England journal of medicine · 2014Piel FB, Weatherall DJDOI: 10.1056/NEJMra1404415
[Alpha-thalassemia].ReviewAnnales de biologie clinique · 1994Peltier JY, Sayada C, Girot R
The Evolving Spectrum of the Epidemiology of Thalassemia.ReviewHematology/oncology clinics of North America · 2018Weatherall DJDOI: 10.1016/j.hoc.2017.11.008
Thalassemia: genotypes and phenotypes.ReviewAnnals of hematology · 1991Loukopoulos DDOI: 10.1007/BF01702920
Update in the genetics of thalassemia: What clinicians need to know.ReviewBest practice & research. Clinical obstetrics & gynaecology · 2017Shang X, Xu XDOI: 10.1016/j.bpobgyn.2016.10.012

via PubMed

~26 min read

Encyclopedic overview

30 sections

Contents

Etymology and synonym
Hemoglobin structural biology
Symptoms
Pathophysiology
Evolutionary advantage
Alpha-thalassemia
Beta-thalassemia
Delta-thalassemia
Combination hemoglobinopathies
Diagnosis
Prenatal and newborn screening
Diagnostic tests
Management
Red blood cell transfusions
Iron chelation
Folic acid
Other treatments
Luspatercept
Hydroxyurea
Osteoporosis
Removal of the spleen
Transplantation and gene therapy
Hematopoietic stem cell transplantation
Gene therapy
Prevention
Epidemiology
History of thalassemia
Further reading
References
External links

Thalassemias are genetic disorders. Alpha thalassemia is caused by deficient production of the alpha globin component of hemoglobin, while beta thalassemia is a deficiency in the beta globin component. The severity of alpha and beta thalassemia depends on how many of the four genes for alpha globin or two genes for beta globin are faulty. Diagnosis is typically by blood tests including a complete blood count, special hemoglobin tests, and genetic tests. Diagnosis may occur before birth through prenatal testing.

Excerpted from Wikipedia’s “thalassemia” article, available under the CC BY-SA 4.0 licence.