The anemia improved spontaneously dependent on the favism in patient with G6PD deficiency

Abstract

Glucose-6-phosphate dehydrogenase (G6PD) enzyme deficiency is the most common enzyme deficiency and the G6PD enzyme is a key enzyme catalyzing the first step of the pentose phosphate pathway. Clinically, G6PD enzyme deficiency causes a series of disorders such as newborn hyperbilirubinemia, acute or chronic hemolysis. The G6PD enzyme catalyzes the first step of the pentose phosphate pathway and leading to the formation of antioxidants that protect cells from oxidative damage. In patients with G6PD enzyme deficiency some drugs, some metabolic conditions and some infections cause oxidative stress-related hemolysis in red blood cells. In this article, we presented a case in which the anemia spontaneously regresses after the exposure of the pine to the anemia due to haemolysis after the eating of the pod in our case with G6PD enzyme deficiency and sickle cell anemia carrier.

Keywords

• Glucose-6-phosphate dehydrogenase deficiency,Sickle cell anemia,Favism,Hemolytic crisis

G6PD eksikliği olan hastada favizme bağlı aneminin spontan düzelmesi

Abstract

Glukoz-6-fosfat dehidrogenaz (G6PD) enzim eksikliği en sık görülen enzim yetersizliğidir ve G6PD enzimi pentoz fosfat yolunun ilk basamağını katalize eden anahtar bir enzimdir. G6PD enzim eksikliği; klinik olarak yenidoğan hiperbilüribinemisi, akut veya kronik hemoliz gibi bir dizi bozukluklara neden olur. G6PD enzimi pentoz fosfat yolunda ilk adım olan yolu katalize eder ve hücreleri oksidatif hasardan koruyan antioksidanların oluşumuna neden olur. G6PD enzim eksikliği olan hastalarda bazı ilaçlar, bazı metabolik durumlar ve bazı enfeksiyonların etkileriyle kırmızı kan hücrelerinde gelişen oksidatif strese bağlı hemoliz olur. Bu yazıda, G6PD enzim eksikliği ve orak hücre anemisi taşıyıcılığı olan olgumuzda, bakla yeme sonrası gelişen hemolize bağlı oluşan aneminin bakla maruziyeti kesildikten sonra anemisi spontan düzelen bir olgu sunuldu.

Keywords

• Glukoz-6-fosfat dehidrogenaz eksikliği,Orak hücreli anemi,Favizm,Hemolitik kriz

References

1. 1) Cappellini MD, Fiorelli G. Glucose-6-phosphate dehydrogenase deficiency. Lancet 2008;371(9606):64- 74.
2. 2) Telefoncu A, Telefoncu F. Glukoz-6-fosfat dehidrogenaz aktivitesine primaquine’nin etkisi. Tr J MedicalSci 1989; 14:57-63.
3. 3) Sodeman WA Jr, Sodeman TM. Sodeman’s Pathologic Physiology Mechanism of Disease, 1985. Çev: kurul, Fizyopatoloji cilt-2, Ankara: Türkiye Klinikleri Yayınevi, 1991:720-724.
4. 4) Kayaalp SO. Rasyonel Tedavi Yönünden Tıbbi Farmakoloji. 9. Baskı. Ankara: Hacettepe-Taş Kitapçılık 2000:155-156.
5. 5) Weksler BB, Moore A, Tepler J. Hematology. In: Andreoli TE, Carpenter CCJ, Plum F, Smith LH Jreds. Cecil Essentials of Medicine. USA: WB SaundersCo., 1990:342-403.
6. 6) Nathan DG, Orkin SH. Glucose-6-phosphate dehydrogenase deficiency and hemolytic anemia. In: Nathan and Oski’s hematology of infancy and childhood. 7th ed. Philadelphia: W. B. Saunders, 2009: 883-900.
7. 7) Hoffman R, Benz Jr EJ, Shattil SJ, et al. In: Hematology Basic PrinciplesandPractise. 5th ed. Churchill LivingstoneElsevier 2009: 565-602. 8) Wang WC. Sickle cell anemia and other sickling syndromes. In: Greer JP, Foerster J, Rodgers GM, Paraskevas F, Glader B, Arber DA, Means RT (eds). Wintrobe’s Clinical Hematology. Philadelphia: Lippincot Williams and Wilkins, 2009: 1038-82. 9) Philip Lanzkowsky. Hemolyticanemia. Manual of Pediatric Hematology and Oncology. 4th ed. Amsterdam: ElsevierAcademicPress, 2005: 136-98.
8. 10) Sodeman WA Jr, Sodeman TM. Sodeman’s Pathologic Physiology Mechanism of Disease, 1985. Çev: kurul, Fizyopatoloji cilt-2, Ankara:Türkiye Klinikleri Yayınevi, 1991:720-724.

9. 11) Tamer l, Ünal B, Aksoy K. Glukoz-6-fosfat dehidrogenaz enzim eksikliği gözlenen olgularda eritrosit zarı Na+- K+/Mg++ adenozin 5’-trifosfataz, eritrosit süperoksiddismutaz ve plazma malondialdehid düzeyleri. Ç.Ü. Tıp Fakültesi Dergisi 1998; 23:114-118.
10. 12. Altay Ç, Gümrük F. Red cell glucose-6-phosphate dehydrogenase deficiency in Turkey. Turk J Hematol 2008; 25:1-7.
11. 13. Minucci A, Moradkhani K, Hwang MJ, Zuppi C, Giardina B, Capoluongo E: Glucose-6-phosphate dehydrogenase (G6PD) mutations database: Review of the “old” and update of the new mutations. Blood Cells Mol Dis 2012;48:154-65.
12. 14. Glucose-6-phosphate dehydrogenase defic ency. WHO working group. Bull World Health Organ 1989; 67: 601-11.
13. 15. Mason PJ, Bautista JM, Gilsanz F. G6PD deficiency: The genotypephenotypeassociation. Blood Rev 2007;21:267-83.
14. 16. Manco L, Pereira J, Relvas L, Rebelo U, Crisóstomo AI, Bento C, Ribeiro ML. Chronic hemolytic anemia is associated with a new glucose-6-phosphate dehydrogenase in-frame deletion in an older woman. Blood Cells Mol Dis 2011;15:288-93.
15. 17) Wolfe L, Manley PE. Disorders of erythrocyte metabolism including porphyria. In: Arceci RJ, Hann IM, Smith OP (eds). Pediatric Hematology. Third ed. Oxford: Blackwell Publishing Ltd, 2006: 171-212.
16. 18) G6PD Enzym in Hemolytic Anemia. H.Doğan, M. İkbal, İ. Pirim. EAJM: 39, Aralık 2007, 214 – 218.
17. 19) İlgen Şaşmaz. Glükoz-6-fosfat dehidrogenaz enzim eksikliği. Türk Ped Arş. 2009; 44 Özel Sayı: 35-38.