M. Rafat, M. Shekari, E. Namjoo, F. Yazdi, Dr. Kianoosh Malekzadeh,
Volume 17, Issue 2 (Summer 2020)
Abstract
Abstract
Background and Objectives
Thalassemia is a group of inherited hemoglobin disorders with defect in the synthesis of hemoglobin chains.
Case
The young couple resident in Bandar Abbas, a 23 year old woman with MCV:63fl; MCH:19; HbA2:3.9 and a 25 year old man with MCV:94fl; MCH:32; HbA2:2.1; HbF:36, were referred to the Bandar Abbas Medical Genetic & PND Center for genetic counselling before marriage.
Conclusions
A rare CD139 mutation (AAT → GAT) was detected which led to substitution of Asparagine by Aspartic Acid in 139th amino acid in hemoglobin chain and created a hemoglobin variant named Hb Geelong. This is the first report for Hb-Geelong in Iran. It seems that this mutation affects the hemoglobin stability though a non-pathologic process and has a phenotype similar to minor β+ thalassemia.
