Palabras clave
HbSDPunjab
hemoglobinopathy
high performance liquid chromatography
Cómo citar
Resumen
Hemoglobinopathies constitute one of the most common inherited hematological disorders in the world with an increasing global disease burden each year. One among them is sickle cell disease with diverse genotypes and wide phenotypic heterogenity. Many subgroups exist within the umbrella of sickle cell disease. Hb S/DPunjab, a rare hemoglobinopathy, is one of them, mimics sickle cell disease, and is discussed in the present study. We describe one such unusual clinical case of a young child who presented with intermittent fever and joint problems. The study case was found to have Hb S/DPunjab by high performance liquid chromatography. Clinical and hematological details of this rare condition is only briefly discussed in the literature. Precise diagnosis can be made using high performance liquid chromatography in conjunction with family studies.
Citas
Rodak., Carr. Clinical hematology atlas. St. Louis: Elsevier; 2017.
Hassan M, Ali Al-Barazanchi Z, Abdulateef S, Jaber R. Double heterozygosity for hemoglobin S and D Punjab in Basra, Iraq: A Clinical and hematological study of 42 patients. Journal of Applied Hematology. 2019;10(4):134.
Nogueira R, Leite C, Souza L, Barbosa A. Clinical and laboratory repercussions in patient with hemoglobin SD-Punjab disease: a case report. Jornal Brasileiro de Patologia e Medicina Laboratorial. 2017;53(5).
Randolph TR. Hemoglobinopathies (Structural Defects in Hemoglobin). In Rodak BF, Fritsma GA, and Doig K (eds.):Hematology: Clinical Principles and Applications, 3rd ed, St. Louis: Saunders, Elsevier, 2007:333-54.
Weatherall, D. J. The challenges of haemoglobinopathies in resource-poor countries. Br J Haematol. 2011; 154:736–744.
Brousse V, Rees D. Sickle cell disease: More than a century of progress. Where do we stand now?. Indian Journal of Medical Research. 2021;154(1):4.
Hockham C, Bhatt S, Colah R, Mukherjee M, Penman B, Gupta S et al. The spatial epidemiology of sickle-cell anaemia in India. Scientific Reports. 2018;8(1).
Cawein M. Hemoglobin S-D Disease. Annals of Internal Medicine. 1966;64(1):62.
Ali W, Jain M, Agarwal S, Kumar A. A Case of Hemoglobin Sickle-D Punjab. Indian Journal of Hematology and Blood Transfusion. 2019;36(1):205-207.
Rohilla Rakhi, Rohilla M, Malhotra P, Das R, Jain V et al. Compound Heterozygous Hemoglobin SD Disease Presenting as Sickle Cell Crisis in Pregnancy. Journal Of Woman's Reproductive Health. 2016; 1(2):25-28.
Todo el material publicado en la revista Hematología (versión electrónica y versión impresa), será cedido a la Sociedad Argentina de Hematología. De conformidad con la ley de derecho de autor (ley 11723) se les enviara a los autores de cada trabajo aceptado formulario de cesión de derechos de autor que deberá ser firmado por todos los autores antes de la publicación. Los autores deberán retener una copia del original pues la revista, no acepta responsabilidad por daños o pérdidas del material enviado. Los autores deberán remitir una versión electrónica al correo: revista@sah.org.ar