SICKLE CELL DISEASE ASSOCIATED WITH THALASSEMIA; DESCRIPTION OF A RARE
MUTATION
Sergio Felipe Pinzon Mariño1, Alejandro José García Ortego2, Ana Gómez Martinez2, Paloma Ropero
Gradilla3, Fernando Ataúlfo González Fernández3, Ana María Villegas Martinez3, Silvia Méndez
Martínez4, Francisco de Asís Bartol Puyal4, Elisa Viladés Palomar4, Carlos Isanta Otal4, Beatriz Cordón
Ciordia4, Josep Oriol Casanovas Marsal4, María Ángeles Montañés Gracia2 and Valle Recaséns Flores2,
(1)Department of Hematology - Hospital del Mar, Barcelona, Spain
(2)Department of Hematology and Hemotherapy – Hospital Universitario Miguel Servet, Zaragoza,
Spain
(3)Department of Hematology - Hospital Universitario San Carlos, Madrid, Spain,
(4)Department of Ophthalmology – Hospital Universitario Miguel Servet, Zaragoza, Spain
I
ntroduction: Hemoglobinopathies are the most frequent monogenic disorder in humans,
with an estimated prevalence of 7%. Within structural hemoglobinopathies, the most
frequent worldwide is sickle cell disease 1, secondary to alterations in the β globin chain,
resulting in an abnormal hemoglobin variant named as hemoglobin S. These disorders show a
wide phenotypical spectrum. As a result of different factors, the worldwide prevalence of
these diseases is changing. We report a case of a 17-year-old male boy born in Gambia
diagnosed with sickle cell disease who presented an associated mutation only described in a
Japanese family 2.
Methods: Case description
Results: A 17-year-old patient, born in Gambia and living in Spain, diagnosed with sickle cell
anemia (Hemoglobin S + associated β or + thalassemia), followed in the Hematopediatric
program of the Miguel Servet Hospital, was included in a clinical study at this hospital, which
included genetic study of his hemoglobinopathy. The laboratory test showed a microcytic and
hypochromic anemia, and the electrophoresis performed showed high concentration of HbS
(72,6%) (Fig 1). Finally, the genetic diagnosis was a hemoglobinopathy S in heterozygous state
β6 (A3) Glu & gt; Val; HBB: c.20A & gt; T associated with a heterozygous β0 thalassemia,
presenting a insertion of a thymine base between codons 42 and 43 that determines the
reading frame shift with absence of chain synthesis encoded by the mutated allele β 0 CD42
/ 43 (+ T); HBB: c.129_130insT (Fig 2).
Conclusions: The epidemiology of hemoglobinopathies has significantly changed over the
time because of multiple factors such as migration and related to the improvement of the
prognosis and survival in this entity that have changed due to new treatments and public
health policies worldwide. A complete understanding of the regulation of globin gene
expression and interaction may open new therapeutically targets. As evidence in this case, a
wide kind of different genotypes exist, and the correct characterization and study could
improve the following and management of this global public health care problem.