• Talassemia in Ukraine: myth or a rare disease? 
en To content Full text of article

Talassemia in Ukraine: myth or a rare disease? 

SOVREMENNAYA PEDIATRIYA.2016.7(79):79-83; doi 10.15574/SP.2016.79.79 

Talassemia in Ukraine: myth or a rare disease? 

Dorosh O. I., Tsymbaliuk-Woloshyn I. P., Seredych L. P., Makuh G. W., Mykh A. M., Polishtchuk R. S., Тrojanowska О. О., Dubey L. J., Wowk Z. W., Fomenko N. M.

Lviv Regional Council Public Institution «Western Ukrainian Specialized Children's Medical Centre», Ukrainе

Danylo Halytsky Lviv National Medical University, Ukrainе

SI «Institute of hereditary pathology of National Academy of Medical sciences of Ukraine», Lviv, Ukrainе

Ivano-Frankivsk National Medical University, Ukrainе


The overview of 2 cases of β-thalassemia in children of Precarpathian region given in the article. The dominant syndrome for both cases was moderate microcytic hypochromic anemia. In one case the both parents were carriers of different thalassemia gene mutations. In another case only mother was the carrier.


Key words: thalassemia, children, gene mutations.


REFERENCES

1. Chen PQ, Liang QN, Huang TS et al. 2016. A Simple, Rapid, and Highly Sensitive Electrochemical DNA Sensor for the Detection of α- and β-Thalassemia in China. J Clin Lab Anal. 30(5): 719—726. https://doi.org/10.1002/jcla.21927; PMid:27228385

2. Musallam KM, Cappellini MD, Wood JC et al. 2011. Elevated liver iron concentration is a marker of increased morbidity in patients with β thalassemia intermedia. Haematologica. 96(11): 1605—1612. https://doi.org/10.3324/haematol.2011.047852; PMid:21791471 PMCid:PMC3208677

3. Habeb AM, Al-Hawsawi ZM, Morsy MM et al. 2013. Endocrinopathies in beta-thalassemia major. Prevalence, risk factors, and age at diagnosis in Northwest Saudi Arabia. Saudi Med J. 34(1): 67—73.

4. Isik P, Yarali N, Tavil B et al. 2014. Endocrinopathies in Turkish children with Beta thalassemia major: results from a single center study. Pediatr Hematol Oncol. 31(7): 607—615. https://doi.org/10.3109/08880018.2014.898724; PMid:24854890

5. Karakas Z, Koc B, Temurhan S et al. 2015. Evaluation of Alpha-Thalassemia Mutations in Cases with Hypochromic Microcytic Anemia: The Istanbul Perspective. Turk J Haematol. 32(4): 344-350. https://doi.org/10.4274/tjh.2014.0204; PMid:26377141 PMCid:PMC4805326

6. Bizzoni A, Lombardi D, Maroldi R et al. 2010. Extramedullary hematopoiesis: a rare occurrence in the sinonasal tract. Auris Nasus Larynx. 37(2): 233—237. https://doi.org/10.1016/j.anl.2009.03.008; PMid:19409738

7. Galanello R, Cao A. 2011. Gene test review. Alpha-thalassemia. Genet Med. 13(2): 83—88. https://doi.org/10.1097/GIM.0b013e3181fcb468; PMid:21381239

8. Haidar R, Musallam KM, Taher AT. 2011. Bone disease and skeletal complications in patients with β thalassemia major. Bone. 48(3): 425—432. https://doi.org/10.1016/j.bone.2010.10.173; PMid:21035575

9. Haidar R, Mhaidli H, Taher AT. 2010. Paraspinal extramedullary hematopoiesis in patients with thalassemia intermedia. European Spine Journal. 19(6): 871—878. https://doi.org/10.1007/s00586-010-1357-2; PMid:20204423 PMCid:PMC2899982

10. Hoffmann JJ, Urrechaga E, Aguirre U. 2016. Discriminant indices for distinguishing thalassemia and iron deficiency in patients with microcytic anemia: a reply. Clin Chem Lab Med. 54(4): 1883—1894. https://doi.org/10.1515/cclm-2015-1227; PMid:26812799

11. Hoppe CC. 2011. Newborn screening for hemoglobin disorders. Hemoglobin. 35(5—6): 556-564.

12. Maldjian JA, Norton KI, Groisman GM, Som PM. 1994. Inflammatory pseudotumor of the maxillary sinus in a 15-year-old boy. AJNR Am J Neuroradiol. 15(4): 784—786.

13. Sanseviero MT, Mazza GA, Pullano MN et al. 2016. Iron deficiency anemia in newly diagnosed celiac disease in children. Minerva Pediatr. 68(1): 1—4.

14. Brancaleoni V, Di Pierro E, Motta I, Cappellini MD. 2016. Laboratory diagnosis of thalassemia. Int J Lab Hematol. 16: 1—9.

15. Viprakasit V, Gibbons RJ, Broughton BC et al. 2001. Mutations in the general transcription factor TFIIH result in beta-thalassaemia in individuals with trichothiodystrophy. Hum Mol Genet. 10(24): 2797—2802. https://doi.org/10.1093/hmg/10.24.2797; PMid:11734544

16. Musallam KM, Rivella S, Vichinsky E, Rachmilewitz EA. 2013. Non-transfusion-dependent thalassemias. Haematologica. 98(6): 833—844. https://doi.org/10.3324/haematol.2012.066845; PMid:23729725 PMCid:PMC3669437

17. Ouali F, Siala H, Bibi A et al. 2016. Prenatal diagnosis of hemoglobinopathies in Tunisia: an 18 years of experience. Int J Lab Hematol. 38(3): 223—232. https://doi.org/10.1111/ijlh.12457; PMid:26993054

18. Ben Rejeb A, Haouala H, Ben Hammadi F et al. 1992. Pseudotumor extramedullary hematopoiesis. Report of 3 cases and review of the literature. Ann Pathol. 12(3): 183—187.

19. Galanello R, Perseu L, Perra C et al. 2004. Somatic deletion of the normal beta-globin gene leading to thalassaemia intermedia in heterozygous beta-thalassaemic patients. Br J Haematol. 127(5): 604—606.

20. Tan YL, Kidson-Gerber G. 2016. Antenatal haemoglobinopathy screening in Australia. Med J Aust. 204(6): 226—230.

21. Thein SL. 2013. The molecular basis of β-thalassemia. Cold Spring Harb Perspect Med. 3(5): a011700.

22. Weatherall DJ. 2012. The definition and epidemiology of non-transfusion-dependent thalassemia. Blood Reviews. 26; Supl 1: 3—6.