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Previous issue date: 2011-02-28 / Conselho Nacional de Desenvolvimento Cient?fico e Tecnol?gico / Alpha thalassemia, the most common monogenic disorder in the world, is characterized by
deletions of one (+-thalassemia) or both alpha genes (0-thalassemia) located on human
chromosome 16 (16p13.3). The most common case of +-thalassemia is a deletion of 3.7 kb of
DNA (-3.7 deletion). It is most prevalent in African and Middle East regions. In the few
studies carried out in Brazilian population -3.7 deletion was the most common deletion,
mainly in African descendants. This study was conducted to determine the prevalence of +-
thalassemia (deletion 3.7kb) in adult population from Rio Grande do Norte. We obtained
blood samples from 713 unrelated individuals of both genders, aged between 18 and 59 years
old. All individuals were born in Rio Grande do Norte. The hematological indices were
obtained in an automatic cell counter (Micros 60, ABX Diagnostics). The hemoglobin
measurement (A2 and Fetal hemoglobin) and the profile confirmation were carried out by high
performance liquid chromatography (HPLC) methodology. Genomic DNA was obtained from
peripheral blood leukocytes using Illustra Blood GenomicPrep Mini Spin kit and -3.7 deletion
was investigated by PCR. Among the 713 individuals studied, 80 (11,2%) presented +-
thalassemia: 79 (11,1%) were heterozygous and 1 (0,1%) homozygous for the -3.7 deletion.
Considering the ethnic group, negroes showed the greatest prevalence of +-thalassemia
(12,5%), followed by mulattoes (12,3%) and caucasian (9,6%). Statistical comparison of
hematological parameters between normal individuals and heterozygous to +-thalassemia
showed significant differences in RBC (p<0,001), MCV (p<0,001), MCH (p<0,001), Hb A2
(p=0,007) as well as female hemoglobin concentration (p=0,003). This is one of the first
studies to research +-thalassemia in general population of Rio Grande do Norte state and
these results attest the importance of investigation of this condition to define the etiology of
microcytosis and hypochromia. / A talassemia alfa, doen?a monog?nica mais frequente no mundo, ? caracterizada por dele??es
envolvendo um dos genes (talassemia a+) ou ambos os genes (talassemia a0) de globina alfa
localizados no cluster a no cromossomo 16 (16p13.3). A altera??o presente na maioria dos
casos de talassemia a+ ? a dele??o de um fragmento de 3.7 kb de DNA (dele??o -a3.7) com
frequ?ncias muito elevadas na regi?o do Mediterr?neo e na ?frica. No Brasil, estudos j?
realizados mostram que a dele??o -a3.7 ? a mais frequente, e sendo, encontrada principalmente
em indiv?duos de origem africana. O presente estudo teve como objetivo principal determinar
a preval?ncia da talassemia alfa+ (dele??o -a3.7) na popula??o adulta do estado do Rio Grande
do Norte. Foram obtidas amostras de sangue de 713 indiv?duos (408 do sexo feminino e 307
do sexo masculino) , com idade compreendida entre 18 e 59 anos, n?o aparentados e naturais
do estado do Rio Grande do Norte. Os dados hematol?gicos foram obtidos em contador
autom?tico de c?lulas (Micros 60, ABX Diagnostics). A confirma??o do perfil hemoglob?nico
e a quantifica??o das hemoglobinas A2 e Fetal foram realizadas por cromatografia l?quida de
alta performance (HPLC). O DNA foi isolado de leuc?citos do sangue perif?rico utilizando-se
o kit ?Illustra blood genomicPrep Mini Spin? (GE Healthcare), e a investiga??o da talassemia
alfa (dele??o - 3.7) foi realizada por PCR. Dos 713 indiv?duos investigados, 80 (11,2%)
apresentaram talassemia alfa+, sendo 79 (11,1 %) heterozigotos (-a3.7/aa) e 1 (0,1%)
homozigoto da dele??o (-a3.7/-a3.7). Considerando a etnia, verificou-se que os indiv?duos
negros apresentaram uma maior preval?ncia de talassemia alfa (12,5%), seguido pelos pardos
(12,3%) e brancos (9,6%). A compara??o dos ?ndices hematol?gicos entre os indiv?duos com
gen?tipo normal e heterozigoto da talassemia alfa+ (dele??o - 3.7) mostrou uma diferen?a
estaticamente significante no n?mero de hem?cias (p<0,001), VCM (p<0,001), HCM
(p<0,001) e A2 (p=0,007), al?m da dosagem de hemoglobina (p=0,003) para o sexo feminino.
O estudo constitui um dos primeiros a investigar a talassemia alfa+ (dele??o -a3.7) na
popula??o geral do estado do Rio Grande do Norte e os resultados obtidos evidenciam a
import?ncia da investiga??o dessa condi??o a fim de elucidar a etiologia da microcitose e/ou
hipocromia
| Identifer | oai:union.ndltd.org:IBICT/oai:repositorio.ufrn.br:123456789/18545 |
| Date | 28 February 2011 |
| Creators | Alcoforado, Gustavo Henrique de Medeiros |
| Contributors | CPF:15591360491, http://lattes.cnpq.br/9869053526045053, Sonati, Maria de F?tima, CPF:07530038800, http://lattes.cnpq.br/6088449213941838, Rebecchi, Ivanise Marina Moretti, CPF:08777147898, http://lattes.cnpq.br/7308186244207080, Medeiros, Tereza Maria Dantas de |
| Publisher | Universidade Federal do Rio Grande do Norte, Programa de P?s-Gradua??o em Ci?ncias Farmac?uticas, UFRN, BR, Bioan?lises e Medicamentos |
| Source Sets | IBICT Brazilian ETDs |
| Language | Portuguese |
| Detected Language | English |
| Type | info:eu-repo/semantics/publishedVersion, info:eu-repo/semantics/masterThesis |
| Format | application/pdf |
| Source | reponame:Repositório Institucional da UFRN, instname:Universidade Federal do Rio Grande do Norte, instacron:UFRN |
| Rights | info:eu-repo/semantics/openAccess |
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