Hemoglobin D ve Hb D’nin β-Talasemi ve Hb S ile Birlikte Kalıtımı

Yıl 2024, Cilt: 10 Sayı: 3, 443 - 449, 19.09.2024

Zeynep Öztürk , Osman Alphan Küpesiz , Elif Güler , Funda Tayfun Küpesiz

https://doi.org/10.53394/akd.1326831

Öz

Amaç: Hb D-Punjab (D-Los Angeles olarak da bilinir), çekinik olarak kalıtılan bir hemoglobin çeşididir. Dünya çapında en yaygın hemoglobin varyantlarından biridir. Bu çalışmada homozigot ve heterozigot Hb D hastalarımız ve Hb D ile diğer hemoglobinopatilerin bileşik heterozigotluğu olan hastalarımızın hematolojik özelliklerini klinik ve laboratuvar bulguları açısından değerlendirmeyi amaçladık.
Yöntemler: Bu çalışmada, Hb D-Punjab'lı vakalar hem heterozigot hem de homozigot durumlarda ve ayrıca Hb S veya β-talasemi ile birlikte kalıtımda tanımlanmıştır. 18 olgunun (Hb D/D (n=2), Hb D/β-talasemi (n=3) ve Hb S/D (n=3) ve Hb D (n=10)) klinik ve laboratuvar özelliklerini sunduk.
Bulgular: Çalışma sonucunda Hb D'nin hem heterozigot hem de homozigot formda asemptomatik olduğu gözlendi. Hb D/β talasemi olguları hafif mikrositik ve hipokromik anemi gösterdi ancak klinik olarak normaldi. Hb S/D bileşik heterozigotluğu, orta derecede hemolitik anemi gösterdi, ancak orak hücre hastaları gibi ağrılı krizlerle şiddetli bir klinik tablo gösterdi.
Sonuç: Homozigot durumda bile asemptomatik olan Hemoglobin D-Punjab, diğer hemoglobinopatilerle birlikte kalıtıldığında hafiften şiddetliye kadar çeşitli klinik tablolara neden olabilir.

Anahtar Kelimeler

hemoglobin D, hemoglobin S, beta talasemi, hemoglobinopati

Hemoglobin D and Coinheritance with Hb S, β-thalassemia

Öz

Objective: Hb D-Punjab (also known as D-Los Angeles) is a recessively inherited variant of hemoglobin. It is one of the most common hemoglobin variants worldwide. In this study, we aimed to evaluate the hematological features of our homozygous and heterozygous Hb D patients and patients with compound heterozygosity for Hb D and other hemoglobinopathies in terms of clinical and laboratory findings.
Methods: In this study, cases with Hb D-Punjab have been identified in both the heterozygous and homozygous states, as well as coinheritance with Hb S or β-thalassemia. We presented the clinical and laboratory characteristics of 18 cases (Hb D/D (n=2), Hb D/β-thalassemia (n=3), and Hb S/D (n=3) and Hb D traits (n=10)).
Results: As a result of the study, it was observed that Hb D was asymptomatic in both heterozygous and homozygous forms. Hb D/β thalassemia cases showed mild microcytic and hypochromic anemia, but they were clinically normal. Compound heterozygosity for Hb S/D showed moderate hemolytic anemia, but a severe clinical picture with painful crises, just like sickle cell patients.
Conclusion: Hemoglobin D-Punjab, which is asymptomatic even in homozygous conditions, can cause a variety of clinical pictures from mild to severe when inherited in combination with other hemoglobinopathies.

Anahtar Kelimeler

hemoglobin D, hemoglobin S, Beta thalassemia, hemoglobinopathy

Kaynakça

• 1. Ghosh K, Shaqalaih A, Salman A, Hassanein AA. Haemoglobinopathies in a large hospital in Kuwait. Haematologia 1993; 25(3):185-90.
• 2. Torres Lde S, Okumura JV, Silva DG, Bonini-Domingos CR. Hemoglobin D-Punjab: origin, distribution and laboratory diagnosis. Revista Brasileira de Hematologia e Hemoterapia 2015; 37(2):120-6.
• 3. Rahimi Z, Akramipour R, Nagel RL, Ahmadi AS, Merat A, Bahrehmand F. The beta-globin gene haplotypes associated with Hb D-Los Angeles [beta121(GH4)Glu --> Gln] in Western Iran. Hemoglobin 2006; 30(1):39-44.
• 4. Patrinos GP, Giardine B, Riemer C, Miller W, Chui DH, Anagnou NP, Anagnou NP, Wajcman H, Hardison RC.Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies. Nucleic Acids Research 2004; 32(Database issue):D537-41.
• 5. Adekile AD, Kazanetz EG, Leonova JY, Marouf R, Khmis A, Huisman TH. Co-inheritance of Hb D-Punjab (codon 121; GAA-->CAA) and beta (0) -thalassemia (IVS-II-1;G-->A). Journal of Pediatric Hematology/Oncology 1996; 18(2):151-3.
• 6. Pandey S, Mishra RM, Pandey S, Shah V, Saxena R. Molecular characterization of hemoglobin D Punjab traits and clinical-hematological profile of the patients. Sao Paulo Medical Journal = Revista Paulista de Medicina 2012; 130(4):248-51.
• 7. Kelleher JF, Jr., Park JO, Kim HC, Schroeder WA. Life-threatening complications in a child with hemoglobin SD-Los Angeles disease. Hemoglobin 1984; 8(3):203-13.
• 8. Afzal H, Umair SF. Haemoglobin sickle D disease: A presentation with ischaemic stroke. JPMA The Journal of the Pakistan Medical Association 2016; 66(3):348-50.
• 9. Silva-Pinto AC, Silva TJ, Moretto EL, Ottoboni MA, Rodrigues ES, Covas DT. Blood donor homozygous for Hb D Los Angeles. Transfusion and Apheresis Science: Official Journal of the World Apheresis Association: Official Journal of the European Society for Haemapheresis 2014; 51(2):219-20.
• 10. Haghpanah S, Ramzi M, Zakerinia M, Nourani Khojasteh H, Haghshenas M, Rezaei N, Moayed V, Rezaei A, Karimi M. Epidemiology of hemoglobinopathies and thalassemias in individuals referred to the haematology research centre, Shiraz University of Medical Sciences, Shiraz, Iran from 2006 to 2011. Hemoglobin 2014; 38(4):287-8.
• 11. Taghavi Basmanj M, Karimipoor M, Amirian A, Jafarinejad M, Katouzian L, Valaei A, Bayat F, Kordafshari A, Zeinali S. Co-inheritance of hemoglobin D and beta-thalassemia traits in three Iranian families: clinical relevance. Archives of Iranian Medicine 2011; 14(1):61-3.
• 12. Panyasai S, Rahad S, Pornprasert S. Coinheritance of hemoglobin D-Punjab and beta(0)-thalassemia 3.4 kb deletion in a Thai girl. Asian Journal of Transfusion Science 2017; 11(2):199-202.
• 13. Worthington S, Lehmann H. The first observation of Hb D Punjab beta zero thalassaemia in an English family with 22 cases of unsuspected beta zero thalassaemia minor among its members. Journal of Medical Genetics 1985; 22(5):377-81.
• 14. Owaidah TM, Al-Saleh MM, Al-Hellani AM. Hemoglobin D/beta-thalassemia and beta-thalassemia major in a Saudi family. Saudi Medical Journal 2005; 26(4):674-7.
• 15. Das S, Mashon RS. Coinheritance of Hb D-Punjab and beta-thalassemia: diagnosis and implications in prenatal diagnosis. Hemoglobin 2015; 39(2):138-40.
• 16. Torres LS, Okumura JV, Belini-Junior E, Oliveira RG, Nascimento PP, Silva DG, Lobo CL, Oliani SM, Bonini-Domingos CR.Phenotypic Diversity of Sickle Cell Disease in Patients with a Double Heterozygosity for Hb S and Hb D-Punjab. Hemoglobin 2016; 40(5):356-8.
• 17. Patel S, Purohit P, Mashon RS, Dehury S, Meher S, Sahoo S, Dash SS, Das K, Das P, Patel DK. The effect of hydroxyurea on compound heterozygotes for sickle cell-hemoglobin D-Punjab--a single centre experience in eastern India. Pediatric Blood &Cancer 2014; 61(8):1341-6.
• 18. Belhoul KM, Bakir ML, Abdulrahman M. Misdiagnosis of Hb D-Punjab/beta-thalassemia is a potential pitfall in hemoglobinopathy screening programs: a case report. Hemoglobin 2013; 37(2):119-23.
• 19. Theodoridou S, Alemayechou M, Perperidou P, Sinopoulou C, Karafoulidou T, Kiriakopoulou G. Compound heterozygosity for Hb D-Punjab / beta-thalassemia and blood donation: case report. Turkish Journal of Haematology: Official Journal of Turkish Society of Haematology 2009; 26(2):100-1.
• 20. Rezende Pdo V, Costa Kda S, Domingues Junior JC, Silveira PB, Belisario AR, Silva CM, Viana MB. Clinical, hematological and genetic data of a cohort of children with hemoglobin SD. Revista Brasileira de Hematologia e Hemoterapia 2016; 38(3):240-6.
• 21. Hamidieh AA, Jalili M, Khojasteh O, Ghavamzadeh A. First report of successful stem cell transplantation in a patient with sickle cell hemoglobin D disease. Journal of Pediatric Hematology/Oncology 2010; 32(5):397-9.
• 22. Villanueva H, Kuril S, Krajewski J, Sedrak A. Pulmonary thromboembolism in a child with sickle cell hemoglobin d disease in the setting of acute chest syndrome. Case Reports in Pediatrics 2013; 2013:875683.
• 23. Thalagahage KH, Jayaweera J, Kumbukgolla W, Perera N, Thalagahage E, Kariyawasam J, Dissanayake V. HbS/D-Punjab Disease: Report of 3 Cases from Sri Lanka. Indian Journal of Hematology & Blood Transfusion: Official Journal of Indian Society of Hematology and Blood Transfusion 2018; 34(2):350-2.
• 24. Devi AMS, Rameshkumar K, Sitalakshmi S. Hb D: A Not So Rare Hemoglobinopathy. Indian J Hematol Blo 2016; 32:S294-S8.
• 25. Perea FJ, Casas-Castaneda M, Villalobos-Arambula AR, Barajas H, Alvarez F, Camacho A, Hermosillo RM, Ibarra B. Hb D-Los Angeles associated with Hb S or beta-thalassemia in four Mexican Mestizo families. Hemoglobin 1999; 23(3):231-7.
• 26. Aslan D. Is Hemoglobin D Trait Hematologically Silent: Comparison With Healthy Controls and beta-thalassemia Carriers. Journal of Pediatric Hematology/Oncology. 2019.