Sickle cell thalassemia in an adult from central india showing massive splenic infarction and gamna-gandy bodies in splenic parenchyma with concomitant plasmodium Falciparum infection (case report)

  • Received 16.09.2022
  • Revised 25.11.2022
  • Accepted 27.12.2022
  • 644 Views
  • Retrieved from Vol. 8, No. 2, 2022
  • Pages 5-10

Background. Sickle cell thalassemia is a heterozygous state of HbS/β+ or HbS/β0 manifested clinically either as an asymptomatic carrier or have features akin to sickle cell anemia. Objective. The aim of the study is to review the literature and discuss the varied clinical manifestations and diagnosis of a case report of haemoglobinopathy in an adult from Central India. Methods. A case of haemoglobinopathy from central part of India is being investigated. Results. A case of haemoglobinopathy in an adult presenting to a tertiary hospital with chronic back ache was reported. The patient was found to have massive splenomegaly with evidence of splenic infarction. Gross examination of spleen revealed multiple soft yellowish pasty areas, which on microscopic examination showed significant necrosis with presence of great amount pale amorphous yellow substance, Gamna-Gandy bodies (GGBs) and massive foreign body cell reaction in splenic parenchyma. Post-splenectomy peripheral blood smear (PBS) showed thrombocytosis and plasmodium falciparum gametocytes. The Hb electrophoresis revealed both elevation of Hb S (49.7%), Hb F (46.7%); Hb A2 (3.0%) and (Hb A 0.7%) consistent with as Sickle Cell Thalassemia Hb S/β+ Thalassemia. Conclusion. Sickle cell thalassemia with long standing huge splenomegaly, splenic infarction with GGBs deposition and concomitant falciparum malaria in clinically stable patient is rare indeed

sickle-cell anemia, beta-thalassemia, malaria, plasmodium falciparum, Gamna-Gandy bodies

https://doi.org/10.11603/ijmmr.2413-6077.2022.2.13152

[1] Silvestroni E, Bianco I. Microdrepanocito-anemia in un soggetto di razza Bianca. Boll A Accad Med Roma 1944; 70:347.

[2] Mohanty D, Colah RB, Gorakshakar AC, Patel RZ, Master DC, Mahanta J, Sharma SK, Chaud­hari U, Ghosh M, Das S, Britt RP, Singh S, Ross C, Jagannathan L, Kaul R, Shukla DK, Mu­thuswamy V. Prevalence of β-thalassemia and other haemo­globinopathies in six cities in India: a multicentre study. J Community Genet.2013; 4(1):33-42. https://doi.org/10.1007/s12687-012-0114-0

[3] Serjeant GR, Ashcroft MT, Serjeant BE, Milner PF. The clinical features of sickle-cell-tha­lassaemia in Jamaica. Br J Haematol. 1973; 24(1): 19-30. https://doi.org/10.1111/j.1365-2141.1973.tb05723.x

[4] Kinney TR, Ware RE. Compound heterozygous states. Sickle cell disease: basic principles and clinical practice. 1994; 29:437-52.

[5] Steinberg MH. Compound heterozygous and other sickle hemoglobinopathies. Disorders of hemoglobin: genetics, pathophysiology, and clinical management. 2001:786-810.

[6] Schmugge M, Waye JS, Basran RK, Zurbriggen K, Frischknecht H. THE Hb S/β+-Thalassemia Phenotype Demonstrates that the IVS-I (− 2)(A>C) Mutation is a Mild β-Thalassemia Allele. Hemoglobin. 2008; 32(3):303-7. https://doi.org/10.1080/03630260802004459

[7] Divoky V, Baysal E, Schiliro G, Dibenedetto SP, Huisman TH. A mild type of Hb S-β+-thalassemia [-92 (C→T)] in a sicilian family. American journal of hematology. 1993; 42(2):225-6. https://doi.org/10.1002/ajh.2830420216

[8] Leffler EM, Band G, Busby GB, Kivinen K, Le QS, Clarke GM, Bojang KA, Conway DJ, Jallow M, Sisay-Joof F, Bougouma EC. Resistance to malaria through structural variation of red blood cell invasion re­ceptors. Science. 2017; 356(6343). https://doi.org/10.1126/science.aam6393

[9] Luzzatto L. Sickle cell anaemia and malaria. Mediterranean journal of hematology and infectious diseases. 2012; 4(1). https://doi.org/10.4084/mjhid.2012.065

[10] McAuley CF, Webb C, Makani J, Macharia A, Uyoga S, Opi DH, Ndila C, Ngatia A, Scott JA, Marsh K, Williams TN. High mortality from Plasmodium falciparum malaria in children living with sickle cell anemia on the coast of Kenya. Blood, The Journal of the American Society of Hematology. 2010; 116(10):1663-8. https://doi.org/10.1182/blood-2010-01-265249

[11] Makani J, Komba AN, Cox SE, Oruo J, Mwamtemi K, Kitundu J, Magesa P, Rwezaula S, Meda E, Mgaya J, Pallangyo K. Malaria in patients with sickle cell anemia: burden, risk factors, and outcome at the outpatient clinic and during hospitalization. Blood, The Journal of the American Society of Hematology. 2010; 115(2):215-20. https://doi.org/10.1182/blood-2009-07-233528

[12] Tubman VN, Makani J. Turf wars: exploring splenomegaly in sickle cell disease in malaria-endemic regions. British journal of haematology. 2017; 177(6):938-46. https://doi.org/10.1111/bjh.14592

[13] Brousse V, Buffet P, Rees D. The spleen and sickle cell disease: the sick (led) spleen. British journal of haematology. 2014; 166(2):165-76. https://doi.org/10.1111/bjh.12950

[14] Chotivanich K, Udomsangpetch R, McGready R, Proux S, Newton P, Pukrittayakamee S, Looareesuwan S, White NJ. Central role of the spleen in malaria parasite clearance. Journal of Infectious Diseases. 2002; 185(10):1538-41. https://doi.org/10.1086/340213

[15] Demar M, Legrand E, Hommel D, Esterre P, Carme B. Plasmodium falciparum malaria in sple­nectomized patients: two case reports in French Guiana and a literature review. The American journal of tropical medicine and hygiene. 2004; 71(3):290-3. https://doi.org/10.4269/ajtmh.2004.71.290

[16] Doolan DL, Dobaño C, Baird JK. Acquired immunity to malaria. Clinical microbiology reviews. 2009; 22(1):13-36. https://doi.org/10.1128/CMR.00025-08

[17] Färnert A, Wyss K, Dashti S, Naucler P. Duration of residency in a non-endemic area and risk of severe malaria in African immigrants. Clinical Microbiology and Infection. 2015; 21(5):494-501. https://doi.org/10.1016/j.cmi.2014.12.011

[18] Olaosebikan R, Ernest K, Bojang K, Mokuolu O, Rehman AM, Affara M, Nwakanma D, Kiechel JR, Ogunkunle T, Olagunju T, Murtala R. A randomized trial to compare the safety, tolerability, and effec­tiveness of 3 antimalarial regimens for the prevention of malaria in Nigerian patients with sickle cell di­sease. The Journal of infectious diseases. 2015; 212(4):617-25. https://doi.org/10.1093/infdis/jiv093

[19] Kleinschmidt-DeMasters BK. Gamna-Gandy bodies in surgical neuropathology specimens: ob­servations and a historical note. Journal of Neuro­pa­thology & Experimental Neurology. 2004; 63(2):106-12. https://doi.org/10.1093/jnen/63.2.106

[20] Piccin A, Rizkalla H, Smith O, McMahon C, Furlan C, Murphy C, Negri G, Mc Dermott M. Com­position and significance of splenic Gamna-Gandy bodies in sickle cell anemia. Human pathology. 2012; 43(7):1028-36. https://doi.org/10.1016/j.humpath.2011.08.011

[21] Tedeschi LG. The Gamna nodule. Hum Pathol. 1971;2(1):182-3. https://doi.org/10.1016/S0046-8177(71)80030-8