Thalassemia: essential radiographic and clinical features of interest to dentistry

Thalassemia is a type of hereditary anemia that predominantly affects individuals born in or descendents of countries bathed by the Mediterranean Sea, such as Italy and Greece. Also known as Cooley’s anemia and Mediterranean anemia, the disease causes alterations in hemoglobin formation and malformations of the cranium, long bones, maxilla and mandible. It presents two distinct clinical conditions: one severe, called “major” thalassemia, and the other mild, denominated “minor” thassalemia. Hematologic exam diagnoses the two forms of the disease. Its clinical and radiographic manifestations include hepatosplenomegalia, lymphadenopathy, augmented mandible, increase in medullary spaces, thick bone trabeculae and in lower quantity, resembling a “spider web”, displacement of the mandibular canal, with loss of detail of its superior and inferior corticals and a radiographic aspect of “hair standing on end” at the surface of the cranium. Some of these manifestations are so characteristic and capable of being observed in radiographs that they form part of the dentist’s routine. This case report discusses the alterations observed in the panoramic radiograph of a patient with thalassemia diagnosed by means of hematologic exam

Microcytic anemia factor no estudo das anemias microcíticas

A anemia ferropénica e a β-Talassemia menor são as anemias microcíticas mais frequentes na prática laboratorial, sendo o seu diagnóstico de extrema importância clínica. O objectivo deste estudo consistiu na análise do poder discriminatório do MAF na caracterização destas anamias. Foi desenvolvido um estudo caso-controlo, tendo sido analisados os hemogramas de um grupo de 47 indivíduos com anemia ferropénica e 37 com β-talassemia, e de um grupo controlo constituído por 58 indivíduos saudáveis. Na diferenciação dos grupos patológicos, apenas a Hemoglobina, o VGM e o RDW apresentaram diferenças significativas. O MAF não demonstrou poder discriminatório relativamente às anemias microcíticas.The iron-deficiency anemia and β-thalassemia minor are the most frequent microcytic anemia in laboratory practice and its clinical diagnosis is extremely important. The aim of this study was the analysis of the discriminatory power of MAF in the characterization of these anemias. We developed a case control study and were analyzed the blood counts of a group of 84 anemic individuals: 47 with iron deficiency anemia and 37 with β-thalassemia, and a control group consisting of 58 healthy subjects. In the differentiation of pathological groups, only the hemoglobin, the MCV and RDW showed significant differences. MAF has not demonstrated discriminatory power in relation to microcytic anemia

A case of beta-thalassaemia major resistant to standard treatment

We report the case of a 22-year-old woman from Albania, with thalassaemia major, in severe clinical condition who could no longer be transfused due to the occurrence of severe, acute, post-transfusional reactions. After 10 years of treatment, she failed to respond to hydroxyurea. When she received thalidomide, haemoglobin levels increased from 3.7 g/dl to 9 g/dl. Since then, at 22 months of follow-up, the therapy is still effective and well tolerated. The case gives the opportunity to describe the clinical use of thalidomide, and its potential in the management of beta-thalassaemia

Brazilian consensus meeting on stem cell transplantation: hemoglobinopathies comittee

Os distúrbios hereditários das hemoglobinas são as doenças genéticas mais frequentes do homem e mais difundidas no mundo, abrangendo sobretudo continentes como África, Américas, Europa e extensas regiões da Ásia. Estima-se que haja 270 milhões de portadores de hemoglobinopatias no mundo, dos quais 80 milhões são portadores de talassemia. Aproximadamente 60 mil crianças nascem anualmente no mundo com talassemia e 250 mil com anemia falciforme, dando uma frequência de 2,4 crianças afetadas para cada 1.000 nascimentos. No Brasil, a doenca falciforme é a doença hereditária monogênica mais comum, estimando-se que haja entre 20 a 30 mil pacientes portadores desta doenca. O transplante de células-tronco hematopoéticas alogênico (TCTH alo) é atualmente a única modalidade terapêutica capaz de curar pacientes com hemoglobinopatias. Neste artigo discutiremos os dados disponíveis na literatura e sugerimos os critérios para a indicação do TCTH nas hemoglobinopatias.Hemoglobinopathies are the most prevalent genetic diseases in man. Most cases are described in Europe, Africa and in the Americas. About 270 million hemoglobinopathy carriers are alive today with 80 million being carriers of thalassemia. We estimate that, throughout the world, about 60,000 children are born annually with thalassemia and 250,000 with sickle cell disease with an estimated frequency of 2.4 children in every 1000 births. Sickle cell disease is the most common monogenic hereditary disease in Brazil with a total of from 20,000 to 30,000 patients. Allogeneic stem cell transplantation is the only curative approach. Here we describe published data and propose criteria to indicate stem cell transplantation in thalassemia and sickle cell disease patients

Le Basi biochimiche e molecolari delle talassemie e la diagnosi dell'Alfa-talassemia eterozigote

Recent aspects of molecular and biochemical basis of thalassemic syndromes are described together with laboratory methods suitable for diagnosis and screening of heterozygous α-thalassemia

Utilizzo della tecnologia microchip per l'identificazione di geni candidati responsabili dell'aumento di HbF.

Expression of fetal globin is silenced normally in adult life; however, determinants linked and/or unlinked to the globin-gene clusters could modify Hb F expression so it persists into adults. Increased expression in adults offers hope as a cure for sickle cell disease (SCD) and b thalassemia, since formation of FS hybrids in SCD inhibits deoxy Hb S polymerization while increased fetal chain expression compensates partially for decreased adult b-globin chains in b thalassemia. Characterization and controlled manipulation of high Hb F determinants is critical to decreasing clinical severity of these life-threatening genetic diseases, which result in high morbidity and mortality worldwide. We report on analysis of a unique b-thalassemia cohort from Sardinia who present with either 1) a mild, non-transfusion-dependent (NTD) form expressing high Hb F, or with 2) a severe, transfusion-dependent (TD) form expressing low Hb F. Both groups are homozygous for the b39 chain-termination mutation and lack adult b globin. Genome-wide DNA arrays were run on 14 TD and 14 NTD patients using the Affymetrix 500K (500,568 SNPs) SNP chip platforms. The average sample cali rates were 94.3% for the 500K chip. Additional samples are being analyzed in an attempt to achieve sufficient power to reach genome-wide significance

Hemoglobinopatias no Distrito Federal, Brasil

Em uma amostra de 3137 pessoas, residentes no Distrito Federal, foram detectadas as seguintes hemoglobinas: em 3009(95,92%) HbAA; em 91 (2,90%) HbAS; em 20(0,64%) HbAC; em 8 (0,26%) talassemia beta minor; em 5(0,16%) HbAJ alfa; em 3 (0,09%) HbAM e em 1 (0,03%) talassemia major associada com HbAS. A HbAS têm as seguintes freqüências, quanto ao grupo racial: branco - 1,84%; mulato claro 2,55%; mulato médio-3,68%; mulato escuro - 6,80%; negro -10,43% e mestiço de índio -3,85%.The hemoglobins of 3137 persons from the Federal District, Brazil was studied. The identified types of hemoglobins were: HbAA (3009 - 95,92%); HbAS (91 - 2,90%); HbAC (20 - 0,64%) beta thalassemia minor (8 - 0,26%); HbAJ alpha (5 - 0,16%); HbAM (3 - 0,09%) and beta thalassemia major/HbS (1 - 0,03%). The frequencies of sickle cell trait (HbAS) of each racial class were: white (1,84%); light mulatto (2,55%); medium mulatto (3,68%); dark mulatto(6,80%), negro (10,43%)and indian mestizo (3,85%)

Association between ethnicity and thalassemia carrier status among secondary school students involved in thalassemia school screening programme in Pahang in 2016

Background: Thalassemia remains a public health concern in Malaysia despite screening programme has been conducted since 2004. Voluntary uptake towards screening test still unsatisfactory as there was lack of public awareness about the importance of screening activities. The public will not come forward for testing if they did not perceive they are susceptible to be a carrier. Multi-ethnicity population as in Pahang poses further challenges to overcome this situation. To our knowledge, there is yet no analytical study done looking at the association between carrier status with ethnicity in Malaysia. Objective: This study aimed to describe the different types of thalassemia carrier and to determine the association between ethnicity and thalassemia carrier status among secondary school students in Pahang. Methodology: A case control study was conducted from March 2018 till May 2018 involving ten districts in Pahang. The study used secondary data derived from ‘Rekod Saringan Talassemia Sekolah’ (KSK/ST/101/2016) form as the source of data. Cases were students who were diagnosed thalassemia carrier and controls were students who were not thalassemia carrier as documented in the database. Simpl