BETA-THALASSEMIA SYNDROMES, CLINICAL AND LABORATORY APPROACH

Year 2002, Volume: 15 Issue: 3, 194 - 200, 03.12.2016

Emine Türkkan Su Gülsün Berrak Cengiz Canpolat

Abstract

The Beta ((3) thalassemia syndromes are a heterogeneous group of genetic disorders. The frequency of thalassemia is dependent on the ethnic origins of the patient population. Turkey is located in a geographic area of the world where thalassemia syndromes are common. The incidence rate of (3-thalassemia carriers was stated to be 2 per cent in Turkey. Clinical manifestations are diverse and range from asymptomatic hypochromia and microcytosis to profound anemia leading to death in early childhood if untreated. Individuals who are homozygous for the (3-thalassemia genes have severe, transfusion-dependent anemia and are said to have (3-thalassemia major. Thalassemia intermedia is a condition in which the degree of hemolysis is milder even though the patient may have a deficiency of both (3 genes. Therefore, thalassemia intermedia is essentially a descriptive term that refers to minimal or no need for transfusions. The presence of one normal gene in the heterozygotes usually leads to enough normal (3-globin chain synthesis so that the affected individuals are usually asymptomatic with only a mild anemia. This condition is referred to as (3-thalassemia minor or (3-thalassemia trait.
In this report clinical and laboratory findings of 13- thalassemia syndromes in childhood are reviewed.
Key Words: Beta thalassemia, Childhood, Anemia, Hypocromic microcytic anemia

References

• /. Edward JB, Patricia JVG. Thalassemia syndromes. In: Miller DR, ed. Blood Diseases of Infancy and Childhood. 7th ed. St. Louis, MO: Mosby-Year Book Inc., ¡990:460-498.
• Cooley TB, Lee F. Series of cases of splenomegaly in children with anemia and peculiar bone changes. Trans Am Fediatr Soc 1925;3 7:29. (citation)
• Aksoy M. The history of beta-thalassemia in Turkey. Turk J Fediatr 1991 ;33:195-197.
• Chernoff A. The distribution of the thalassemia gene: A historical review. Blood 1959; 14:899. (citation)
• Siniscalco M. Population genetics of
• haemoglobin variants, thalassaemia and glucose-6-phosphate dehydrogenase
• deficiency, with particular reference to the malaria hypothesis. Bull WHO 1966:34:379.
• Tiurse G. Iron, the thalassaemias, and malaria. Lancet 1979:2:938-940.
• Hagel RL, Roth EF Jr. Malaria and red cell genetic defects. Blood 1989;74:1213-1221.
• Barrai I, Rosito A, Cappellozza G. Beta- thalassemia in the Fo Delta: selection,
• geography, and population structure. Am J Hum Genet 1984:36:1121 -1134.
• Angastiniotis M, Ryriakidou S, Hadjiminas M. The Cyprus thalassemia control program. Birth Defects Orig Artie Ser 1988:23:4 I 7-432.
• Çavdar AO, Arcasoy A.The incidence of - thalassemia and abnormal hemoglobins in Turkey. Acta flaematol 197!,-45:312-318.
• Bircan I, Sisli S, Guven A, et at. Hemoglobinopathies in the district of Antalya, Turkey. Fediatr Hematol Oncol 1993; 10:289- 291.
• Koçak R, Alparslan ZTi, Agridag G, Baslamisli E, Aksungur FD, Hollas S. The frequency of anaemia, iron deficiency, hemoglobin S and beta thalassemia in the south of Turkey. Eur J Epidemiol 1995; I 1:181-184.
• Tiathan DG, Gunn RB. Thalassemia: the consequences of unbalanced hemoglobin synthesis. Am J Med 1966:4 1:815-830.
• Weatherall DJ, Clegg JB, Naughton MA. Globin synthesis in thalassaemia: an in vitro study, nature 1965:208:1061-1065.
• Joshi W, Leb L, Piotrowski J, Fortier N, Snyder LM. Increased sensitivity of isolated alpha subunits of normal human hemoglobin to oxidative damage and crosslinkage with spectrin. J Lab Clin Med 1983; 102:46-52.
• McDonogh HT, nienhuis AW. The
• thalassemias. In: Nathan DG, Oski FA, eds. Hematology of infancy and childhood. Philadelphia: W. B. Saunders Company,
• :783-879.
• I 7. Orkin S. Molecular analysis of human disease: dissection of beta-thalassemia. Clin Res 1984;32:329-333.
• liazazian H. The thalassemia syndromes: molecular basis and prenatal diagnosis in 1990. Semin Hematol 1990:27:209-228.
• Nienhuis AW, Anagnou NP, Ley TJ. Advances in thalassemia research. Blood 1984:63:738- 758.
• Tadmouri GO, Tuzmen S, Ozcclik H. Molecular and population genetic analyses of beta- thalassemia in Turkey. Am J Hematol 1998:57:215-220.
• Atalay EO, Cirakoglu B, Dincol G. Regional distributions of beta-thalassemia mutations in Turkey. Int J Hematol 1993;57:207-211.
• Basak AN, Ozcelik H, Ozer A. Tolun A, Rirdar B. Molecular characteristic of Turkish patients with beta-thalassaemia. Doga-Tr.J. of Medical Sciences 1991;15:426-434.
• Basak AN, Ozcelik H, Ozer A et at. The moleculer basis of P-thalassemia in Turkey. Hum Genet 1992:89:315-318.
• 9 9
• Emine Türkkan, et al
• Sukru T, Tadmouri GO, Ozer A, et al. Prenatal diagnosis of (5-thalassemia and sickle cell anaemia in Turkey. Prenat Diag 1996; 16:252- 258.
• Galanello R, Cossu P, Pirastu M, Cao A. Clinical presentation of thalassemia major due to homozygous beta (O)-thalassemia. ITouv Rev Fr Hematol 1981 ;23:101-106.
• Lukens JIT. The thalassemias and related
• disorders: quantitative disorders of
• hemoglobin synthesis. In: Lee GR, ed. Lee: Wintrobes Clinical Hematology. Baltimore: Lippincott Williams & Wilkins, 1999:1405- 1448.
• Lawson JP, Ablow RC, Pearson HA. The ribs in thalassemia. II. The pathogenesis of the changes. Radiology 1981 ; 140:673-679.
• Rioja L, Girot R, Garabedian M, Cournot- Witmer G. Bone disease in children with homozygous beta-thalassemia. Bone Miner 1990;8:69-86.
• Ratip S, Petrou M, Old JM, Wonke B, Porter JB, Modell B. Relationship between the severity of beta-thalassaemia syndromes and the number of alleviating mutations. Eur J Haematol 1997;58:14-21.
• Metaxotou-Mavromati AD, Antonopoulou HR, Laskari SS, Tsiarta HR, Lad is VA, Rattamis CA. Developmental changes in hemoglobin F levels during the first two years of life in normal and heterozygous beta-thalassemia infants. Pediatrics 1982;69:734-738.
• Wood WG, Weatherall DJ, Hart GH, Bennett M, Marsh GW. Hematologic changes and hemoglobin analysis beta thalassemia heterozygotes during the first year of life. Pediatr Res 1982; 16:286-289.
• Schwartz E. The silent carrier of beta thalassemia. IT Engl J Med 1969;281:132 7- 1333.
• Ristaldi MS, Casula S, Porcu S, Cao A. normal delta globin gene sequence in carrier of the silent-IOI (C-T) beta-thalassemia mutation with normal Hb A2 level. Am J Hematol 2001,67:58.
• Yataganas X, Fessas P. The pattern of hemoglobin precipitation in thalassemia and its significance. Ann H Y Acad Sci 1969;165:270-287.
• Galanello R, Melis MA, Ruggeri R, Cao A. Prospective study of red blood cell indices, hemoglobin A2, and hemoglobin F in infants heterozygous for Beta-thalassemia. J Pediatr 1981;99:105-108.
• Rund D, Filon D, Strauss H, Rachmilewitz EA, Oppenheiin A. Mean corpuscular volume of
• heterozygotes for beta-thalassemia correlates with the severity of mutations. Blood. 1992;79:238-243.
• Ranavakis E, Wainscoat JS, Wood WG, et al. The interaction of alpha thalassaemia with heterozygous beta thalassaemia. Br J Haematol 1982,-52:465-473.
• Melis MA, Pirastu M, Galanello R, Furbetta M, Tuveri T, Cao A. Phenotypic effect of heterozygous alpha and beta O-thalassemia interaction. Blood 1983:62:226-229.
• Lyberatos C, Chalevelakis G, Platis A, Stathakis IT, Panani A, Gardikas C. Erythrocyte content of free protoporphyrin in thalassaemic syndromes. Acta Haematol 1972:47:164-167.
• Stockman JA 3rd, Weiner LS, Simon GE, Stuart MJ, Oski FA. The measurement of free erythrocyte porphyrin (FEP) as a simple means of distinguishing iron deficiency from beta- thalassemia trait in subjects with microcytosis. J Lab Clin Med 1975:85:1 13-1 19.
• Rattamis C, Lagos P, Metaxotou-Mavromati A, Matsaniotis IT. Serum iron and unsaturated iron-binding capacity in the -thalassaemia trait: their relation to the levels of haemoglobins A, A 2 , and F. J Med Genet 1972;9:154-159.
• England JM, Fraser PM. Differentiation of iron deficiency from thalassaemia trait by routine blood-count. Lancet 1973; I -.449-452.
• Mentzer WC Jr. Differentiation of iron deficiency from thalassaemia trait. Lancet 1973:1:882.
• Bessman JD, Feinstein Dl. Quantitative anisocytosis as a discriminant between iron deficiency and thalassemia minor. Blood 1979;53:288-293.
• Cao A, Rosatelli C, Pirastu M, Galanello R.
• Thalassemias in Sardinia: molecular
• pathology, phenotype-genotype correlation, and prevention. Am J Pediatr Hematol Oncol. 1991;13:179-188.
• Schoen EJ, Marks SM, Clemons MM, Bachman RP. Comparing prenatal and neonatal diagnosis of hemoglobinopathies. Pediatrics. 1993;92:354-357.
• Ravel R. Depletion Anemia, in: Ravel: Clinical Laboratory Medicine. St. Louis: Mosby Year Book, 1995:40-55.
• Başaran IT, Sayli BS, Başaran A, Solak M, Artan S, Stevenson JD. Consanguineous marriages In the Turkish population, din Genet 1988;34:339-341.
• Altay C, Yilgor E, Beksac S, Gurgey A. Premarital screening of hemoglobinopathies: a pilot study in TuTurkey. Hum tiered 1996:46:! 12-114.