HB D-PUNJAB ASSOCIATED WITH A BETA(0)-THA LASSEMIA IN AN INDIAN FAMILY - 2ND CASE DESCRIBED IN SPAIN

The present report described the hematologic and molecular study of th e second case of Hb D-Punjab associated with a beta degrees-thalassemi a found in Spain and the first case in which the mutations have been i dentified at molecular level. A family from India is studied, which is constituted by mother (I-2) and 3 children (II1, II2 and II3). The mo lecular characterization of the hemoglobinopathy was made by electroph oretic and chromatographic techniques and confirmed by sequencing of t he betaglobin gene. The mutation causer of the betathalassemia was stu died by PCR-ARMS. The mother (I-2) and one of her child (II2) are carr iers of the gene for beta degrees-thalassemia owing to the frameshift CD 8/9 mutation (+G). Other of them (II1) is heterozygous for Hb D-Pun jab without betathalassemia association. The third child (II3) knows a double heterozygote state for Hb D-Punjab/beta degrees-thalassemia (h emoglobin D-thalassemia). In spite of the patient with hemoglobin D-th alassemia has 94.5% of Hb D, without Hb A, the hematologic picture bel ongs to thalassemia trait with moderate haemolytic anemia, intense myc rocytosis and hypochromia and numerous target cells. This hematologic picture discloses the mildness of the Hb D-Punjab, but the reliable re sponsible for the phenotype is the disbalance in the synthesis of glob in chains, because of frameshift CD 8/9 mutation (+G) beta degrees-tha lassemia mutation.