Review article on Thalassemia

  • iqra tabassum lahore garrison university
  • Aruba Maryam Iqbal Lahore Garrison University, Pakistan
  • Mahum Sajjad Lahore Garrison University, Pakistan
  • Kehkashan Lahore Garrison University, Pakistan
Keywords: prenatal diagnosis, premarital screening, molecular defects, prevalence

Abstract

Thalassemia is a hereditary blood disorder which is passed down through families in which the body makes an abnormal form of hemoglobin. This disorder results in the destruction of red blood cell in large number, which leads to anemia. It is caused by mutation in the DNA of cells that make hemoglobin. Thalassemia should be prevented by premarital screening and prenatal diagnosis which is helpful in decreasing prevalence and future incidence of thalassemia.The most important problem in thalassemia patients are iron overload, cardiac arrhythmia, hepatitis, osteoporosis and endocrine disorder however there are typical signs and symptoms of anemia. People with thalassemia can get treatment as indicated by the degree of seriousness of their condition. Blood transfusion is the common treatment for thalassemia. This review presents the types, diagnosis, prevalence, complications and treatment of thalassemia.

Downloads

Download data is not yet available.

References

Lee, P. (1925). Series of cases of splenomegaly in children with anemia and peculiar bone change. Trans. Am. Pediatr. Soc, 37, 29-30.

COOLEY, T. B., Witwer, E. R., & Lee, P. (1927). Anemia in children: With splenomegaly and peculiar changes in the bones report of cases. American Journal of Diseases of Children, 34(3), 347-363.

Bradford, W. L., & Dye, J. (1936). Observations on the morphology of the erythrocytes in Mediterranean disease—Thalassemia: erythroblastic anemia of cooley. The Journal of Pediatrics, 9(3), 312-317.

Nang, M. K. Pathophysiology, Clinical Manifestations, and carrier DetectioninThalassemia.

Sharma, D. C., Arya, A., Kishor, P., Woike, P., & Bindal, J. (2017). Overview on thalassemias: a review article. Medico Research Chronicles, 4(03), 325-337.

Lukens, J. N. (1993). The thalassemias and related disorders: quantitative disorders of hemoglobin synthesis. Wintrobe's clinical hematology, 1103.

Nang, M. K. Pathophysiology, Clinical Manifestations, and Carrier Detectionin Thalassemia.

Abubakar, I. I., Tillmann, T., & Banerjee, A. (2015). Global, regional, and national age-sex specific all-cause and cause-specific mortality for 240 causes of death, 1990-2013: a systematic analysis for the Global Burden of Disease Study 2013. Lancet, 385(9963), 117-171.

Nang, M. K. Pathophysiology, Clinical Manifestations, and carrier DetectioninThalassemia.

Sharma, D. C., Arya, A., Kishor, P., Woike, P., & Bindal, J. (2017). Overview on thalassemias: a review article. Medico Research Chronicles, 4(03), 325-337.

Weiner, M., Karpatkin, M., Hart, D., Seaman, C., Vora, S. K., Henry, W. L., & Piomelli, S. (1978). Cooley anemia: High transfusion regimen and chelation therapy, results, and perspective. The Journal of pediatrics, 92(4), 653-658.

Graziano, J. H. (1978). Chelation therapy in β-thalassemia major. I. Intravenous and subcutaneous deferoxamine. Journal of Pediatrics, 92(4), 648-652.

Cazzola, M., Stefano, P. D., Ponchio, L., Locatelli, F., Beguin, Y., Dessì, C., ... & Galanello, R. (1995). Relationship between transfusion regimen and suppression of erythropoiesis in β‐thalassaemia major. British journal of haematology, 89(3), 473-478.

Sharma, D. C., Rai, S., Agarwal, N., Sao, S., Gaur, A., & Sapra, R. (2008). Transfusion of neocytes concentrate/pooled neocytes in β-thalassemic patients. Indian Journal of Hematology and Blood Transfusion, 24(4), 173-177.

Angelucci, E., Matthes-Martin, S., Baronciani, D., Bernaudin, F., Bonanomi, S., Cappellini, M. D., ... & Giardini, C. (2014). Hematopoietic stem cell transplantation in thalassemia major and sickle cell disease: indications and management recommendations from an international expert panel. haematologica, 99(5), 811-820.

Taher, A., Isma'eel, H., & Cappellini, M. D. (2006). Thalassemia intermedia: revisited. Blood Cells, Molecules, and Diseases, 37(1), 12-20.

Greer, J. P., Arber, D. A., Glader, B. E., List, A. F., Means, R. M., & Rodgers, G. M. (2018). Wintrobe's clinical hematology. Lippincott Williams & Wilkins.

Modiano, G., Morpurgo, G., Terrenato, L., Novelletto, A., Di Rienzo, A., Colombo, B., ... & Dixit, K. A. (1991). Protection against malaria morbidity: near-fixation of the α-thalassemia gene in a Nepalese population. American journal of human genetics, 48(2), 390.

Sharma, D. C., Arya, A., Kishor, P., Woike, P., & Bindal, J. (2017). Overview on thalassemias: a review article. Medico Research Chronicles, 4(03), 325-337.

Modiano, G., Morpurgo, G., Terrenato, L., Novelletto, A., Di Rienzo, A., Colombo, B., ... & Dixit, K. A. (1991). Protection against malaria morbidity: near-fixation of the α-thalassemia gene in a Nepalese population. American journal of human genetics, 48(2), 390.

Terrenato, L., Shrestha, S., Dixit, K. A., Luzzatto, L., Modiano, G., Morpurgo, G., & Arese, P. (1988). Decreased malaria morbidity in the Tharu people compared to sympatric populations in Nepal. Annals of Tropical Medicine & Parasitology, 82(1), 1-11.

Pelley, J. W., & Goljan, E. F. (2010). Rapid Review Biochemistry E-Book. Elsevier Health Sciences.

Sharma, D. C., Arya, A., Kishor, P., Woike, P., & Bindal, J. (2017). Overview on thalassemias: a review article. Medico Research Chronicles, 4(03), 325-337.

Haddow, J. E. (2005). Couple screening to avoid thalassemia: successful in Iran and instructive for us.

Samavat, A., & Modell, B. (2004). Iranian national thalassaemia screening programme. Bmj, 329(7475), 1134-1137.

MoafiA, V. (2010). Prevalence of minor beta thalassemia based on RBC indices. Int J HematolOnchol Stem Cell. Res, 23-27.

Kumar, R., Sagar, C., Sharma, D., & Kishor, P. (2015). β-globin genes: mutation hot-spots in the global thalassemia belt. Hemoglobin, 39(1), 1-8.

Nathan, D. G., & Oski, F. A. (1987). Hematology of infancy and childhood.

Nathan, D. G., & Gunn, R. B. (1966). Thalassemia: the consequences of unbalanced hemoglobin synthesis. The American journal of medicine, 41(5), 815-830.

Singer, S. T. (2009). Variable clinical phenotypes of α-thalassemia syndromes. TheScientificWorldJournal, 9.

Kumar, R., Sharma, D. C., & Kishor, P. (2012). Hb E/β-Thalassemia: The Second Most Common Cause of Transfusion-Dependent Thalassemia in the Gwalior-Chambal Region of Central India. Hemoglobin, 36(5), 485-490.

Mourad, F. H., Hoffbrand, A. V., Sheikh‐Taha, M., Koussa, S., Khoriaty, A. I., & Taher, A. (2003). Comparison between desferrioxamine and combined therapy with desferrioxamine and deferiprone in iron overloaded thalassaemia patients. British journal of haematology, 121(1), 187-189.

Pearson, H. A., Cohen, A. R., Giardina, P. J. V., & Kazazian, H. H. (1996). The changing profile of homozygous β-thalassemia: demography, ethnicity, and age distribution of current North American patients and changes in two decades. Pediatrics, 97(3), 352-356.

Sagar, C. S., Kumar, R., Sharma, D. C., & Kishor, P. (2015). DNA damage: beta zero versus beta plus thalassemia. Annals of human biology, 42(6), 585-588.

Sagar, C. S., Kumar, R., Sharma, D. C., & Kishor, P. (2015). Alpha hemoglobin stabilizing protein: Its causal relationship with the severity of beta thalassemia. Blood Cells, Molecules, and Diseases, 55(2), 104-107.

CITATION
DOI: 10.26838/MEDRECH.2021.8.1.471
Published: 2021-01-25
How to Cite
1.
iqra tabassum, Iqbal AM, Sajjad M, Kehkashan. Review article on Thalassemia. Med. res. chronicles [Internet]. 2021Jan.25 [cited 2024Mar.29];8(1):42-6. Available from: https://medrech.com/index.php/medrech/article/view/471
Section
Review Article