Pathophysiology of α- and β-thalassemia: Therapeutic implications

Rund, Deborah; Rachmilewitz, Eliezer A.

doi:10.1016/s0037-1963(01)90028-9

Cited by 41 publications

(16 citation statements)

References 36 publications

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“…Thalassemia is the most frequent hereditary hemolytic anemia; these patients need frequent blood transfusions [1]. This treatment has some side effects: iron overload and infections are the most frequent.…”

Section: Abstract Alloantibody Alloimmunization Antibody Screeningmentioning

confidence: 99%

Blood Transfusion and Alloimmunization in Patients with Thalassemia: Multicenter Study

Azarkeivan

Ansari²,

Ahmadi

et al. 2011

Pediatric Hematology and Oncology

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One of transfusion's side effects is alloimmunization against red blood cell (RBC) antigens. Early diagnosis by antibody screening is an important step in the detection of these alloantibodies. The authors studied the frequency of alloimmunization in thalassemic patients of 4 centers (2 adult and 2 pediatric centers) and compared the rates in children (up to 15 years) and adults. Antibody screening tests were performed by gel method according to its standard pattern and respective program. In positive cases, antibody identification test by gel method was performed. Eight hundred thirty-five patients were studied; 548 (65.6%) were adults (mean age = 24.5), and 287 (34.4%) cases were pediatrics (mean age = 10.05). Of these patients, 74.1% had no history of transfusion reaction, whereas 21 (2.5%) had hemolytic complications. Seventy-eight (9.3%) exhibited allergic symptoms, and 117 (14%) cases experienced febrile reactions during transfusion. Antibody screening showed positive results in 22 pediatric cases (7.7%) and 79 adults (14.4%); 72 (71.3%), 19 (18.8%), 3 (3%), and 1 (1%) cases exhibited single, double, triple, and autoantibodies, respectively. Anti-Kell antibody was seen in 34 (33.7%) cases, anti-D was seen in 11 (10.9%) cases, and anti-E in was seen in 10 (9.9%) cases. The authors observed 8 anti-D+C (7.9%) cases, 1 anti-D+E (1%), 3 anti-Kell+E, 3 anti-Kell+Kpa (3%), and 1 anti-Kell+D double antibodies. These antibodies were also a combination of Rh subgroups or Rh and Kell subgroups. The authors observed meaningful relations between history of transfusion reactions and age with antibody screening results (P = .005). Based on alloantibodies types, more than two thirds of them were Rh subgroups and Kell groups. Phenotype determination of RBCs before beginning chronic blood transfusion and careful cross-matching with Kell and Rh subgroups in addition to ABO may help reduce alloimmunization in chronic transfusion patients.

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Section: Abstract Alloantibody Alloimmunization Antibody Screeningmentioning

confidence: 99%

Blood Transfusion and Alloimmunization in Patients with Thalassemia: Multicenter Study

Azarkeivan

Ansari²,

Ahmadi

et al. 2011

Pediatric Hematology and Oncology

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“…Thalassemia syndrome is a heterogeneous inherited disorder that leads to severe hemolysis, ineffective erythrepoiesis, and severe anemia [1]. Management of these patients is based on regular blood transfusion to suppress the bone marrow for synthesis of abnormal hemoglobin [2].…”

mentioning

confidence: 99%

PULMONARY FUNCTION TEST IN TRANSFUSION-DEPENDENT Β-Thalassemia PATIENTS

Azarkeivan

Mehrvar

Pour³

et al. 2008

Pediatric Hematology and Oncology

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Beta-thalassaemia is the most common hemoglobinopathies in our region with treatment of regular blood transfusion. Iron overload and hemosiderosis can cause organ involvement. Recent studies have focused on pulmonary involvement and pathophysiology of lung damage. The goal of this study was to investigate the pulmonary abnormalities in thalassemic patients in relation with sign and symptoms and iron overload. The authors studied pulmonary function test (PFT) at the Adult Thalassemia Clinic in Tehran. The history of blood transfusion, iron chelation, respiratory problems, and drug usage was taken. Physical examination, PFT, arterial blood gas (ABG), and chest X-ray (CXR) were done. In total, 139 patients were studied. The mean age was 21.1 years and mean duration of transfusion was 18 years. It was found that 133 patients (95.7%) did not have respiratory problems and only 6 (4.3%) had some respiratory complaints. In CXR, 100 patients (89.3%) had normal lung pattern and others (10.7%) had variable degrees of abnormal lung pattern. In ABG, mean of Po(2) was 73.5% and mean of O(2) saturation was 90.6%. In PFT, 101 patients (72.7%) had restrictive pattern, 35 (25.1%) had normal pattern, and 3 (2.2%) had combined pattern. According to vital capacity, the patients were placed in five categories: 54 patients (38.8%) normal, 37 (26.6%) mild, 35 (25.3%) moderate, 10 (7.2%) severe, and 3 (2.1%) extremely severe pulmonary deficit. There was no statistical significance between PFT results with all variables studied, except duration of blood transfusion, which may be considered a indirect effect of iron load (p = .05, r = .361). According to these results, restrictive pattern was the most common finding (72.7%) in PFT, while 95.7% of patients had no respiratory complaint, and in the chest X-ray group, 89.3% had normal pattern. The authors conclude that the lung may be considered a site for organ damage, and alteration of pulmonary function may be expected in transfusion-dependent patients in spite of no pulmonary symptoms or normal CXR. In recent years, because of new iron chelating drugs, doctors can expect thalassemic patients to have a long life-time and need to increase their quality of life. One way to do this is to evaluate the respiratory system by PFT to prevent the squeal of pulmonary disease.

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“…2,58,63 Instead, it is the damage caused at the cellular level by excess, improperly paired α-globin chains which leads to premature cell death and accounts for the majority of the pathology.…”

Section: Phenotypic Effects Of α α-Globin In β β-Thalassemiamentioning

confidence: 99%

Controlling -globin: a review of -globin expression and its impact on -thalassemia

Voon¹,

Vadolas²

2008

Haematologica

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Synthesis of α-globin and α-globin subunits of hemoglobin occurs at high levels during erythrocyte differentiation in a tightly controlled and co-ordinated fashion. Expression of α-globin is a fascinatingly complex process which has been meticulously defined in several recent studies, from chromatin modifications to Pol II recruitment. Following this, α-globin transcripts are processed and stabilized by a protein complex which binds the 3' untranslated region. Transcription and stabilization contribute to high level expression of α-globin. However, translation of α-globin at levels exceeding α-globin expression damages cellular membranes and results in β-thalassemia. It is, therefore, crucial that α-globin proteins are properly folded and stabilized, processes which are dependent on the presence of haem and AHSP. The exceedingly well-characterized process of α-globin expression elegantly illustrates the complex interaction of factors which are required to balance necessary high expression against the negative impacts of overexpression.

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Pathophysiology of α- and β-thalassemia: Therapeutic implications

Cited by 41 publications

References 36 publications

Blood Transfusion and Alloimmunization in Patients with Thalassemia: Multicenter Study

Blood Transfusion and Alloimmunization in Patients with Thalassemia: Multicenter Study

PULMONARY FUNCTION TEST IN TRANSFUSION-DEPENDENT Β-Thalassemia PATIENTS

Controlling -globin: a review of -globin expression and its impact on -thalassemia

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