An unusual presentation of hemoglobin SD Punjab in a Saudi Arabian adult

Abstract

HbDPunjab is an uncommon variant hemoglobin that does not result in significant pathology when inherited as a homozygous disorder. When inherited with other hemoglobinopathies, it may result in varying disease phenotypes. HbSDPunjab has been rarely reported in Saudi Arabia, coexisting with alpha or beta thalassemia. In this report, we discuss the case of a 39 years old male who presented with severe anemia and renal injury and was later diagnosed with HbSDPunjab through electropheresis and genetic testing.

Occurrence of Unusual Haemoglobinopathies in Balochistan: Hb Sd and Hb Se - Presentation With Osteomyelitis

“…History of haemoglobinopathies is enriched with very unique and uncommon phenomenon, two of them being very peculiar and rare inherited disorders named Hb SD and Hb SE. 1 , 2 Hb SD and Hb SE are both variants of SDC, which is due to defect in the beta-globin chain of haemoglobin, leading to polymerization of haemoglobin on occasions when it is not bound to oxygen. This polymerization of the beta-globin chain leads to a vaso-occlusive crisis ultimately leading to a variety of symptoms including recurrent pain, dactylitis, acute chest syndrome, autosplenectomy, and osteomyelitis.…”

“…Hb SD and Hb SE are deviant haemoglobins with mutations affecting the beta-globin gene. 1 , 2 Among all types of haemoglobinopathies, Itano, in 1950, identified haemoglobin D as a new variant, 7 but it was first documented by Vella and Lehman in 1974. 8 Hb SE disease, in turn, was unearthed in a 70-year aged woman along with her 30-year-old son, natives of Southern Turkey in 1957.…”

“…Haemoglobin SD disease (Hb SD) and haemoglobin SE disease (Hb SE) are both variants of sickle cell disease (SCD), which is a defect of a beta-globin chain of haemoglobin leading to polymerization of haemoglobin resulting in a vaso-occlusive crisis and other clinical manifestations. 1 Hb SD and Hb SE are deviant haemoglobins with mutations affecting the beta-globin gene. 2 All hereditary haemoglobinopathies are distributed worldwide depending upon the variants.…”