Format

Send to:

Choose Destination

Links from Books

Thalassemia

MedGen UID:
21121
Concept ID:
C0039730
Disease or Syndrome
Synonyms: Thalassemias
SNOMED CT: Hereditary leptocytosis (40108008); Thalassemia syndrome (84188003); Thalassemia (40108008)
 
OMIM®: 604131

Definition

Thalassemias are inherited blood disorders. If you have one, your body makes fewer healthy red blood cells and less hemoglobin. Hemoglobin is a protein that carries oxygen to the body. That leads to anemia. Thalassemias occur most often among people of Italian, Greek, Middle Eastern, Southern Asian, and African descent. Thalassemias can be mild or severe. Some people have no symptoms or mild anemia. The most common severe type in the United States is called Cooley's anemia. It usually appears during the first two years of life. People with it may have severe anemia, slowed growth and delayed puberty, and problems with the spleen, liver, heart, or bones. Doctors diagnose thalassemias using blood tests. Treatments include blood transfusions and treatment to remove excess iron from the body. If you have mild symptoms or no symptoms, you may not need treatment. In some severe cases, you may need a bone marrow transplant. NIH: National Heart, Lung, and Blood Institute.  [from MedlinePlus]

Additional description

From GeneReviews
Beta-thalassemia (β-thalassemia) is characterized by reduced synthesis of the hemoglobin subunit beta (hemoglobin beta chain) that results in microcytic hypochromic anemia, an abnormal peripheral blood smear with nucleated red blood cells, and reduced amounts of hemoglobin A (HbA) on hemoglobin analysis. Individuals with thalassemia major have severe anemia and hepatosplenomegaly; they usually come to medical attention within the first two years of life. Without treatment, affected children have severe failure to thrive and shortened life expectancy. Treatment with a regular transfusion program and chelation therapy, aimed at reducing transfusion iron overload, allows for normal growth and development and may improve the overall prognosis. Individuals with thalassemia intermedia present later and have milder anemia that only rarely requires transfusion. These individuals are at risk for iron overload secondary to increased intestinal absorption of iron as a result of ineffective erythropoiesis.  https://www.ncbi.nlm.nih.gov/books/NBK1426

Professional guidelines

PubMed

Traeger-Synodinos J, Harteveld CL, Old JM, Petrou M, Galanello R, Giordano P, Angastioniotis M, De la Salle B, Henderson S, May A; EMQN haemoglobinopathies best practice meeting
Eur J Hum Genet 2015 Apr;23(4):426-37. Epub 2014 Jul 23 doi: 10.1038/ejhg.2014.131. [Epub ahead of print] PMID: 25052315Free PMC Article

Recent clinical studies

Etiology

Gaziev J, Isgrò A, Sodani P, Marziali M, Paciaroni K, Gallucci C, De Angelis G, Andreani M, Testi M, Alfieri C, Ribersani M, Galluccio T, Battarra MR, Morrone A, Lucarelli G
Transplantation 2016 Apr;100(4):925-32. doi: 10.1097/TP.0000000000000928. PMID: 26457600
Wongprachum K, Sanchaisuriya K, Dethvongphanh M, Norcharoen B, Htalongsengchan B, Vidamaly V, Sanchaisuriya P, Fucharoen S, Fucharoen G, Schelp FP
Acta Haematol 2016;135(2):65-9. Epub 2015 Oct 8 doi: 10.1159/000438739. [Epub ahead of print] PMID: 26444381
Berdoukas V, Coates TD, Cabantchik ZI
Free Radic Biol Med 2015 Nov;88(Pt A):3-9. Epub 2015 Jul 26 doi: 10.1016/j.freeradbiomed.2015.07.019. [Epub ahead of print] PMID: 26216855
Chen YG, Lin TY, Chen HJ, Dai MS, Ho CL, Kao CH
Eur J Intern Med 2015 Sep;26(7):554-9. Epub 2015 Jun 6 doi: 10.1016/j.ejim.2015.05.015. [Epub ahead of print] PMID: 26051928
Maheen H, Malik F, Siddique B, Qidwai A
J Genet Couns 2015 Dec;24(6):945-51. Epub 2015 Apr 7 doi: 10.1007/s10897-015-9830-z. [Epub ahead of print] PMID: 25843562

Diagnosis

Rund D
Am J Hematol 2016 Jan;91(1):15-21. doi: 10.1002/ajh.24231. PMID: 26537527
Gaziev J, Isgrò A, Sodani P, Marziali M, Paciaroni K, Gallucci C, De Angelis G, Andreani M, Testi M, Alfieri C, Ribersani M, Galluccio T, Battarra MR, Morrone A, Lucarelli G
Transplantation 2016 Apr;100(4):925-32. doi: 10.1097/TP.0000000000000928. PMID: 26457600
Chen YG, Lin TY, Chen HJ, Dai MS, Ho CL, Kao CH
Eur J Intern Med 2015 Sep;26(7):554-9. Epub 2015 Jun 6 doi: 10.1016/j.ejim.2015.05.015. [Epub ahead of print] PMID: 26051928
Nagar R, Sinha S, Raman R
Blood Cells Mol Dis 2015 Jun;55(1):10-4. Epub 2015 Mar 28 doi: 10.1016/j.bcmd.2015.03.005. [Epub ahead of print] PMID: 25976460
Maheen H, Malik F, Siddique B, Qidwai A
J Genet Couns 2015 Dec;24(6):945-51. Epub 2015 Apr 7 doi: 10.1007/s10897-015-9830-z. [Epub ahead of print] PMID: 25843562

Therapy

Gaziev J, Isgrò A, Sodani P, Marziali M, Paciaroni K, Gallucci C, De Angelis G, Andreani M, Testi M, Alfieri C, Ribersani M, Galluccio T, Battarra MR, Morrone A, Lucarelli G
Transplantation 2016 Apr;100(4):925-32. doi: 10.1097/TP.0000000000000928. PMID: 26457600
Berdoukas V, Coates TD, Cabantchik ZI
Free Radic Biol Med 2015 Nov;88(Pt A):3-9. Epub 2015 Jul 26 doi: 10.1016/j.freeradbiomed.2015.07.019. [Epub ahead of print] PMID: 26216855
Boonchooduang N, Louthrenoo O, Choeyprasert W, Charoenkwan P
Pediatr Hematol Oncol 2015;32(5):341-8. Epub 2015 Jun 18 doi: 10.3109/08880018.2015.1033795. [Epub ahead of print] PMID: 26086564
Kasraian L, Karimi MH
Hemoglobin 2015;39(4):274-80. Epub 2015 Jun 2 doi: 10.3109/03630269.2015.1031908. [Epub ahead of print] PMID: 26036919
Dehury S, Purohit P, Patel S, Meher S, Kullu BK, Sahoo LK, Patel NK, Mohapatra AK, Das K, Patel DK
Pediatr Blood Cancer 2015 Jun;62(6):1017-23. Epub 2014 Dec 24 doi: 10.1002/pbc.25391. [Epub ahead of print] PMID: 25546091

Prognosis

Gaziev J, Isgrò A, Sodani P, Marziali M, Paciaroni K, Gallucci C, De Angelis G, Andreani M, Testi M, Alfieri C, Ribersani M, Galluccio T, Battarra MR, Morrone A, Lucarelli G
Transplantation 2016 Apr;100(4):925-32. doi: 10.1097/TP.0000000000000928. PMID: 26457600
Kasraian L, Karimi MH
Hemoglobin 2015;39(4):274-80. Epub 2015 Jun 2 doi: 10.3109/03630269.2015.1031908. [Epub ahead of print] PMID: 26036919
Chen YG, Lin TY, Lin CL, Dai MS, Ho CL, Kao CH
Medicine (Baltimore) 2015 Apr;94(13):e700. doi: 10.1097/MD.0000000000000700. PMID: 25837766Free PMC Article
Chen MR, Ko HS, Chao TF, Liu HC, Kuo JY, Bulwer BE, Yeh HI, Hung CL
Echocardiography 2015 Jan;32(1):79-88. Epub 2014 Mar 27 doi: 10.1111/echo.12590. [Epub ahead of print] PMID: 24673419
Wong P, Fuller PJ, Gillespie MT, Kartsogiannis V, Kerr PG, Doery JC, Paul E, Bowden DK, Strauss BJ, Milat F
J Bone Miner Res 2014 Nov;29(11):2468-73. doi: 10.1002/jbmr.2266. PMID: 24764138

Clinical prediction guides

Gaziev J, Isgrò A, Sodani P, Marziali M, Paciaroni K, Gallucci C, De Angelis G, Andreani M, Testi M, Alfieri C, Ribersani M, Galluccio T, Battarra MR, Morrone A, Lucarelli G
Transplantation 2016 Apr;100(4):925-32. doi: 10.1097/TP.0000000000000928. PMID: 26457600
Wongprachum K, Sanchaisuriya K, Dethvongphanh M, Norcharoen B, Htalongsengchan B, Vidamaly V, Sanchaisuriya P, Fucharoen S, Fucharoen G, Schelp FP
Acta Haematol 2016;135(2):65-9. Epub 2015 Oct 8 doi: 10.1159/000438739. [Epub ahead of print] PMID: 26444381
Kuesap J, Chaijaroenkul W, Rungsihirunrat K, Pongjantharasatien K, Na-Bangchang K
Korean J Parasitol 2015 Jun;53(3):265-70. Epub 2015 Jun 30 doi: 10.3347/kjp.2015.53.3.265. PMID: 26174819Free PMC Article
Nagar R, Sinha S, Raman R
Blood Cells Mol Dis 2015 Jun;55(1):10-4. Epub 2015 Mar 28 doi: 10.1016/j.bcmd.2015.03.005. [Epub ahead of print] PMID: 25976460
Maheen H, Malik F, Siddique B, Qidwai A
J Genet Couns 2015 Dec;24(6):945-51. Epub 2015 Apr 7 doi: 10.1007/s10897-015-9830-z. [Epub ahead of print] PMID: 25843562

Recent systematic reviews

Tubman VN, Fung EB, Vogiatzi M, Thompson AA, Rogers ZR, Neufeld EJ, Kwiatkowski JL; Thalassemia Clinical Research Network
J Pediatr Hematol Oncol 2015 Apr;37(3):e162-9. doi: 10.1097/MPH.0000000000000307. PMID: 26201037Free PMC Article
Giusti A
J Bone Miner Metab 2014 Nov;32(6):606-15. Epub 2014 Apr 21 doi: 10.1007/s00774-014-0584-8. [Epub ahead of print] PMID: 24748165
Goss C, Giardina P, Degtyaryova D, Kleinert D, Sheth S, Cushing M
Transfusion 2014 Jul;54(7):1773-81. Epub 2014 Feb 24 doi: 10.1111/trf.12571. [Epub ahead of print] PMID: 24611697
King A, Shenoy S
Blood 2014 May 15;123(20):3089-94; quiz 3210. Epub 2014 Feb 7 doi: 10.1182/blood-2013-01-435776. [Epub ahead of print] PMID: 24511087
Ip HW, So CC
Crit Rev Clin Lab Sci 2013 Nov;50(6):125-41. doi: 10.3109/10408363.2013.847236. PMID: 24295057

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...