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A list of relevant scientific literature published on Haemoglobinopathies.
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Int J Lab Hematol. 2009 Apr 17 VAN Delft P, Lenters E, Bakker-Verweij M, de Korte M, Baylan U, Harteveld CL, Giordano PC. The
Haemoglobinopathies Laboratory, Department of Human and Clinical
Genetics, Leiden University Medical Centre (LUMC), Leiden, The
Netherlands. We have tested five haemoglobin (Hb)
separation apparatuses, dedicated to haemoglobinopathy diagnostics.
These are the four high performance liquid chromatography devices:
VARIANT II(), HA 8160, G7, Ultra(2) and the Capillary Electrophoresis
apparatus from Sebia. In the first place, we focussed on the capacity
of all apparatuses to detect the most common structural variants
relevant for public health, these being HbS, HbC, HbE, HbD-Punjab and
HbO-Arab. We then compared how the high HbA(2)beta-thalassaemia
carriers were identified. All apparatuses were able to identify
carriers of these traits with the expected sensitivity and specificity.
With the primary goal of a high degree of conformity in basic
diagnostics of haemoglobinopathies, we present the interpretation and
the significance of the results on all apparatuses, and we comment on
the unavoidable problems and solutions. PMID: 19486364
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Blood Cells Mol Dis. 2006 Jul-Aug;37(1):12-20. Epub 2006 Jun 5. Taher A, Isma'eel H, Cappellini MD.
Department
of Internal Medicine, Hematology-Oncology Division, American University
of Beirut Medical Center, Beirut 1107 2020, Lebanon. ataher@aub.edu.lb
Thalassemia
intermedia encompasses a wide clinical spectrum of beta-thalassemia
phenotypes. Some thalassemia intermedia patients are asymptomatic until
adult life, whereas others are symptomatic from as young as 2 years of
age. A number of clinical complications commonly associated with
thalassemia intermedia are rarely seen in thalassemia major, including
extramedullary hematopoiesis, leg ulcers, gallstones and thrombophilia.
Prevention of these complications, possibly with blood transfusion
therapy, is ideal since they may be difficult to manage. Currently,
many patients with thalassemia intermedia receive only occasional or no
transfusions, since they are able to maintain hemoglobin levels between
7-9 g/dl; the risk of iron overload, necessitating adequate chelation
therapy, is also a contributing factor. At present, there are no clear
guidelines for initiating and maintaining transfusions in thalassemia
intermedia for the prevention or treatment of complications. Here, we
review the major clinical complications in thalassemia intermedia and
suggest some therapeutic strategies based on retrospective clinical
observations.
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LETTERS TO THE EDITOR Treatment of acute hepatitis C in a child with thalassemia major using weight-based peginterferon α-2b Ala I
Sharara,*
Elie
Aoun,*
Suzanne
Koussa,
†
Adlette
Inati
†
and Ali
Taher*,† Acute infection with hepatitis C virus (HCV) is rarely recognized in children, except in the setting of an outbreak. Screening of blood and blood products has virtually eliminated the risk of HCV acquisition from transfusions and perinatal transmission has become the leading route of new HCV infection in children.
There are no reports on the type or duration of therapy of acute HCV in children. Herein, we report a child with thalassemia major who developed transfusion-associated acute hepatitis C treated successfully with weight-based dosing of peginterferon α-2b.
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Clin Lab Haematol. 2006 Aug;28(4):217-27.
Chronic Care Center, Baabda, Lebanon.
Beta-thalassemia
is a hereditary anemia that is quite prevalent in Lebanon. Most
patients with beta-Thalassemia are treated and followed up mostly at a
multidisciplinary center, located in the suburban area of Beirut: the
Chronic Care Center (CCC), operational since 1994. We will review the
experience with beta-Thalassemia accumulated through this institution.
Four hundred and twenty five patients, aged 2 to 68 years are followed
up at the CCC. Sixty four percent have thalassemia major (TM) while 36%
have thalassemia intermedia (TI). Lebanese patients with TM receive
periodic packed red cell transfusions to maintain a pre-transfusional
hemoglobin level of 10 gm/dl at all times and desferrioxamine is the
standard iron chelator in use. Since 1994, 12 patients with TM have
died from complications of their disease, with heart failure being
responsible for the majority of deaths. The incidence of cardiac,
endocrinologic, and infectious complications will be reviewed. Finally,
both current and prospective preventive measures will be discussed,
specifically educational campaigns and premarital screening. The
effects of prevention are starting to show as the number of newly
diagnosed disease is diminishing.
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Thromb Haemost. 2006 Oct;96(4):488-91. Taher A, Isma'eel H, Mehio G, Bignamini D, Kattamis A, Rachmilewitz EA, Cappellini MD.
Internal Medicine, American University of Beirut, Beirut, Lebanon.
Beta-thalassaemia
is a congenital haemolytic anaemia characterized by partial
(intermedia, TI) or complete (major, TM) deficiency in the production
of beta-globin chains. The primary aim of this study was to determine
the prevalence of thromboembolic events in patients with
beta-thalassaemia. To achieve this, a multiple choice questionnaire was
sent to 56 tertiary referral centres in eight countries (Lebanon,
Italy, Israel, Greece, Egypt, Jordan, Saudi Arabia and Iran),
requesting specific information on patients who had experienced a
thromboembolic event. The study demonstrated that thromboembolic events
occurred in a clinically relevant proportion (1.65%) of 8,860
thalassaemia patients (TI - 24.7% or TM - 75.3%) from the Mediterranean
and Iran. Thromboembolism occurred 4.38 times more frequently in TI
than TM (p < 0.001), with more venous events occurring in TI and
more arterial events occurring in TM. Thrombosis in thalassaemia was
also more common in females, splenectomized patients and those with
profound anaemia (haemoglobin <9 g/dl). Due to the increased risk of
thromboembolic events, the rationale for splenectomy should perhaps be
re-assessed and the role of transfusion therapy for the prophylaxis of
thrombosis, among other complications, be evaluated prospectively.
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Letter to editor. Complications of  -thalassemia intermedia: A 12-year Lebanese experience | | Ali Taher 1 2, Fuad El Rassi 1, Hussain Ismaeel 1, Adlette Inati 2 3 | 1Department of Internal Medicine, American University of Beirut Medical Center, Beirut, Lebanon
2Division of Hematology, Chronic Care Center, Hazmieh, Lebanon
3Division of Pediatric Hematology and Oncology, Rafic Hariri, University Hospital, Beirut, Lebanon
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setDOI("ADOI=10.1002/ajh.21174") Thalassemia is an inherited disease that affects a- or b-chain molecules of hemoglobin [1,2]. The Middle East has one of the highest rates of
incidence worldwide, and the Lebanese population specifically has 3% carrier prevalence with approximately one-third of the patients suffering from
thalassemia intermedia (TI).
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Letter to editor.
Aida Habib1,
Corinne Kunzelmann2,
Wael Shamseddeen3,
Fatiha Zobairi2,
Jean-Marie Freyssinet2,
Ali Taher3
1 Department of Biochemistry
3 Internal Medicine, American University of Beirut, Lebanon; The Chronic Care Center, Hazmieh, Lebanon;
2 INSERM, U770, Université Paris-Sud, Le Kremlin-Bicêtre,
France; Université Louis Pasteur, Faculté de Médecine, Institut
d’Hématologie et d’Immunologie, Strasbourg, France
Correspondence: Aida Habib, Department of
Biochemistry, American University of Beirut, PO Box 11-236 Beirut,
Lebanon. Phone: international +961.135000 ext. 4882. Fax: international
+961.1370814. E-mail:ah31@aub.edu.lb Patients with β-thalassemia intermedia (β TI) are completely asymptomatic until adult life, experiencing only mild anemia, maintaining hemoglobin levels between 7 and 10 g/dL, and require only occasional blood transfusions, if any. MPs are shed submicrometric plasma membrane fragments (~0.1–1 µm) harboring negatively-charged procoagulant phosphatidylserine (PS) in their extracellular membrane leaflet. They mainly derive from apoptotic or activated cells, and generally present a procoagulant potential.1 Increased levels of circulating MPs were described in many disorders with major vascular and thrombotic symptoms.2
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Pediatrics. 2008 May;121(5):e1426-9.
Musallam K, Cappellini MD, Taher A.
Faculty of Medicine, American University of Beirut Medical Center, Riad El Solh 1107 2020, Beirut, Lebanon.
Thalassemia
is a chronic condition that presents a range of clinical and
psychosocial challenges. Although recent advances in the treatment of
thalassemia can prolong patient life spans, problems may arise when
patients are transferred from pediatric health care settings to adult
health care settings. These issues and our recommendations for handling
them are discussed.
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Am J Cardiol. 2008 Aug 1;102(3):363-7. Epub 2008 May 29. Isma'eel H, Chafic AH, Rassi FE, Inati A, Koussa S, Daher R, Gharzuddin W, Alam S, Taher A.
Department of Internal Medicine Hematology-Oncology Division, American University of Beirut, Medical Center, Beirut, Lebanon.
Cardiovascular
impairment is a major cause of morbidity and mortality in patients with
thalassemia intermedia. In this study, echocardiographic assessment of
left heart condition was performed in patients with thalassemia
intermedia, and its relation to hematologic variables-amino terminal
pro-brain natriuretic peptide (NT-proBNP), ferritin, hemoglobin-and
liver iron concentration (LIC) was investigated. Echocardiographic
assessment was performed using pulse-wave Doppler and tissue Doppler
imaging. Data from 74 patients with thalassemia intermedia-35 men, 39
women, mean age 26.5 years (8 to 63) -were randomly selected and
evaluated. Blood samples were collected for NT-proBNP levels in a
random subgroup of 19 patients. Mean baseline values were hemoglobin
8.4 g/dl (4.9 to 13.1), serum ferritin 902.6 ng/ml (15 to 4,140), LIC
9.0 mg Fe/g (0.5 to 32.1), and NT-proBNP 113.5 pg/ml (16.4 to 371).
Correlation between LIC and pulmonary artery systolic pressure was
significant, suggesting that iron loading in the liver is indicative of
cardiovascular sequelae. NT-proBNP was significantly correlated with
the ratio of the left ventricular early rapid filling wave to early
diastolic velocity at the mitral annulus (r = 0.50, p = 0.04) and
hemoglobin (r = -0.49, p = 0.03), but not with other characteristics
assessed. In conclusion, this study has highlighted the importance of
using tissue Doppler imaging rather than pulse-wave Doppler to
characterize left ventricular diastolic dysfunction in patients with
thalassemia intermedia. Demonstration of the correlation of LIC and
pulmonary artery systolic pressure independent of left ventricular
filling pressures supports our hypothesis that left ventricular
diastolic dysfunction does not contribute to the increased pulmonary
artery systolic pressure in patients with thalassemia intermedia.
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Authors: La Nasa G, Littera R, Locatelli F, Giardini C, Ventrella A, Mulargia M, Vacca A, Orrù N, Orrù S, Piras E, Giustolisi G, Lisini D, Nesci S, Caocci G, Carcassi C.
Biol Blood Marrow Transplant. 2007 Nov;13(11):1358-68. Epub 2007 Sep 14.
Several studies have investigated the role played by killer immunoglobulin-like receptors (KIRs) and their ligands on the outcome of hematopoietic stem cell transplantation (HSCT) in patients affected by oncohematologic diseases. However, the interpretation of the results of these studies is considerably hampered by the heterogeneity of the diseases, disease status at transplantation, and the different protocols employed for both conditioning and graft-versus-host disease (GVHD) prophylaxis. To better define the role of KIRs in HSCT, we studied KIR genotypes and HLA class I ligands in a homogeneous group of 45 thalassemia patients transplanted with bone marrow cells from an HLA-identical, unrelated donor. Patients that were heterozygotes for HLA-Cw groups 1 (HLA-Cw(Asn80)) and 2 (HLA-Cw(Lys80)) had a higher risk of developing acute GVHD than C1/C1 or C2/C2 homozygotes (relative risk [RR] = 8.75; 95% confidence interval [CI]: 1.63-46.76; P = .007). Vice versa, all patients who experienced primary/secondary graft failure were C1/C1 or C2/C2 homozygotes (RR = 20.45; 95% CI = 1.08-384.24; P = .009). Moreover, the presence of the HLA-A11 antigen conferred protection against GVHD (0% versus 35%, P = .02). Our results suggest that C1/C2 heterozygosity, may favor the development of donor alloreactivity and thereby increase the risk of GVHD. Conversely, C1/C1 and C2/C2 homozygosity seems to reduce the risk of GVHD but may increase the incidence of graft rejection. These data may be helpful in tailoring the intensity of GVHD prophylaxis and conditioning regimens in thalassemia patients receiving HSCT from an HLA-identical volunteer donor.
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Authors: La Nasa G, Littera R, Locatelli F, Lai S, Alba F, Caocci G, Lisini D, Nesci S, Vacca A, Piras E, Bernardo ME, Di Cesare-Merlone A, Orrù S, Carcassi C.
Br J Haematol. 2007 Oct;139(2):284-8.
The presence of the 14-bp insertion polymorphism of the human leucocyte antigen (HLA)-G gene (HLA-G) promotes immune tolerance through increased synthesis of HLA-G molecules. We investigated this polymorphism in a large cohort of 53 thalassaemia patients transplanted from an unrelated donor. Sixteen patients (30.2%) homozygous for the 14-bp deletion had a higher risk of developing acute graft-versus-host disease (aGvHD) than patients homozygous for the 14-bp insertion (-14-bp/-14-bp vs +14-bp/+14-bp: Relative Risk = 15.0; 95% confidence interval 1.59-141.24; P = 0.008). Therefore, the 14-bp polymorphism could be an important predictive factor for aGvHD following bone marrow transplantation.
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Authors: B. Wonke a; M. Modell b; T. Marlow a;
M. Khan b; B. Modell c
Date: 2007
Source: Scandinavian Journal of Clinical & Laboratory Investigation. 67(1):87-96, 2007. Abstract: The high prevalence of
microcytosis (defined here as mean cell haemoglobin<27 pg) with no other
abnormality is a principal cause of confusion in screening for haemoglobin
disorders. Here we report the results of a small pilot study aiming to resolve
this confusion by routinely proceeding to plasma ferritin and HPLC assay, using
the original sequestrene blood sample, when microcytosis is detected. Participants
comprised a random sample of 1,302 people referred for a full blood count by
their General Practitioner (GP) to the laboratory of a North
London district general hospital serving a multi-ethnic inner-city
population. Ethnicity was established by questionnaire. In North Europeans,
microcytosis was present in 3 % of males (half were iron-deficient) and 11 % of
females (most were iron-deficient). Among ethnic minorities, microcytosis was
present in 35 % of males (one tenth were iron-deficient), and 45 % of females
(less than half were iron-deficient): an exclusion diagnosis of "probable
alpha thalassaemia" could be made in the remainder. We conclude that when
microcytosis is present, routine further analysis of the original sequestrene
sample by plasma ferritin assay and haemoglobinopathy screening could lead to a
more efficient and cost-effective laboratory service for primary care and
maternity services.
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Author: Old, J M.
Date: 2007
Source: Scandinavian Journal of Clinical & Laboratory Investigation. 67(1):71-86, 2007. Abstract: The haemoglobin disorders are a group of autosomal recessive
disorders characterized by either the reduced synthesis of one or more normal
globin chains (the thalassaemias), the
synthesis of a structurally abnormal globin chain (the haemoglobin variants) or
in a few cases by both phenotypes (the reduced synthesis of a Hb variant, e.g.
Hb E). They are the commonest single-gene disorders known and approximately 1000
different mutant alleles have now been characterized at the molecular level. The
mutations are regionally specific, with each country having its own unique
spectrum of abnormal haemoglobins and thalassaemia mutations, and can occur at high
gene frequencies in some ethnic groups 1. Although haemoglobinopathy mutations
are rarely found in individuals of North European origin, the number of
immigrants in the North European countries is steadily increasing and the
variety of their ethnic origins poses a problem for screening and accurate diagnosis.
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Editors:Springer, ...
Date: 2006
This book is an edited collection of papers by leading experts on the population genetics and evolutionary biology of malaria. Written for: Clinicians and researchers in infectious disease,researchers in Population Genetics, Evolutionary Biology and Immunology, anyone involved in the research or treatment of malaria.
read more ...
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