ABSTRACT
Hemoglobine (Hb) Q-India is an innocuous αglobin variant: α64 Asp → His. DNA sequencing studies have shown that the Hb Q India mutation is GAC → CAC in codon 64 of the α1 gene. Hb Q-India is a well-known hemoglobin variant in South-East Asia but only isolated case reports exist in literature to describe this rare entity in the rest of de world. The variant has been found with various forms of αand ß thalassemia. This hemoglobin has the same electrophoretic mobility as Hb S. We report, for the first time, the identification of Hb Q-India in an Argentinian woman (her parents came from Gibraltar), referred to our laboratory bearing a mild microcytic hypocromic anemia; a co-inherited α+ thalassemia (-α3.7 th) was also found.
La hemoglobina (Hb) Q India es una hemoglobina anormal e inocua que afecta la cadena α de esta. Los análisis de secuencia han demostrado que la mutación se encuentra en el codon 64 GAC → CAC del gen α1. Si bien es una variante muy conocida en el sudeste asiático, solo se han reportado pocos casos en el resto del mundo. Esta hemoglobina anormal se ha encontrado asociada con diversas formas de α y ß talasemia y su posición electroforética es idéntica a la de la Hb S. Reportamos, por primera vez, la identificación de la Hb Q India en una mujer Argentina (cuyos padres procedían del Peñón de Gibraltar), enviada a nuestro laboratorio por padecer de anemia microcítica hipocrómica, en la que se encontró también la coexistencia de α+ talasemia (-α3,7 th).
ABSTRACT
Hematological parameters in newborn umbilical cord blood samples (n=476), collected at the Hospital Provincial del Centenario, Rosario, were studied. They were divided into 3 groups: (I) full term newborns with weight according to gestational age; II) low weight and normal gestational age; (III) preterm newborns. The results were as follows: group (I) Hb: 15.5 + 1.1 g/dl; RBC: 4.66 + 0.33 x 1012/I; PCV:49 + 4.3 percent, MCV 105.1 + 5.3 fl; MHC: 33.2 + 1.2 pg. Decreased Hb concentration (p<0.05) and increased MCV (p<0.01) were observed in preterm newborns in comparison with normal ones, and a slight PCV increase and RBC values in low weight newborns compared to the control group (p<0.05). Erytrocyte morphology was normal as well as reticulocyte values in these samples. The electrophoretic pattern was (FA) with the following Hb F values 66.3 + 6.8 percent, and Hb A2 0.45 + 0.3 percent in group (I), with a significant increase of Hb F in 30-35 weeks preterm newborns. Group(I) values are considered as normal hematological parameters in newborns in our country, whereas MCV< 94.7 fl is considered as a neonatal microcytosis marker, consequently an alert to investigate alpha-thalassemia. There was no influence on Hb concentration due to maternal smoking habit. The present work could be of relevance for our region since up to the present time there are no similar records.