scholarly journals Thalassemia: With the “Red” in the Bag Amid COVID-19 Reflections

2020 ◽  
Vol 7 (4) ◽  
pp. 439-441
Author(s):  
Veeresh Pavate
Keyword(s):  
Chronic Condition ◽  
Patient Perspective ◽  
Present Situation ◽  
Thalassemia Major ◽  
Beta Thalassemia ◽  
Beta Thalassemia Major ◽  
Blood Disorder ◽  
Cooley's Anemia

This narrative piece written from a patient perspective angle who lives with a chronic condition—Beta thalassemia major (also known as Cooley’s Anemia), a serious, life-long, genetic blood disorder. The narrative portrays how the present situation of COVID-19 pandemic adds an extra layer to the challenges in the lives of people living with thalassemia.

scholarly journals RATIONAL EMOTIVE THERAPY IBU YANG MEMILIKI ANAK DENGAN THALASSAEMIA BETA MAYO

2019 ◽  
Vol 12 (1) ◽  
pp. 81-90
Author(s):  
Aprilia Putri Rahmadini
Keyword(s):  
Group Counseling ◽  
Rational Emotive Behavior Therapy ◽  
Thalassemia Major ◽  
The Body ◽  
Beta Thalassemia ◽  
Rational Beliefs ◽  
Rational Emotive Therapy ◽  
Beta Thalassemia Major ◽  
Blood Disorder ◽  
Rational Emotive

Beta Thalassaemia Major is a genetic blood disorder that causes blood cells red rapidly destroyed in 20-30 days so that the body is deprived of blood. Treatment can be done during this time is a lifetime of blood transfusions. Their conditions of denial of information mother about the child's condition, as was the condition of self is not a carrier of thalassemia trait, blaming the pair as a nature, thinking irrational that the child's illness is a punishment from God for their sins in the past, the child has no future again, resulting in the emergence of maternal behavior that may endanger the lives of children like too late to bring the child to transfusion. Research Purposes is to produce a group counseling program with Rational Emotive Behavior Therapy (REBT) approach in order to increasing acceptance of mothers of children with beta thalassemia major. Research Design is one group pretest-posttest. Group counseling with REBT approach is done in 6 meetings. In the process, the mother will discuss issues with members of the group and counselors who help mothers to detect the irrational belief that appears, discriminating rational beliefs, and challenging that belief, to be replaced by a rational belief. The subject are mothers who have children with beta thalassemia major amounted to 2 people. Results  known to both participants are still in bargaining phase. However, prevalence increased mother’s acceptance of children with beta thalassemia major, marked by decreased aspects of denial and anger on both mother. Conclusion Group counseling with REBT approach can improve mother’s acceptance of children with beta thalassemia major.

scholarly journals Abnormal assembly of membrane proteins in erythroid progenitors of patients with beta-thalassemia major

Blood ◽  
1996 ◽  
Vol 87 (5) ◽  
pp. 2049-2056 ◽  
Author(s):  
M Aljurf ◽  
L Ma ◽  
E Angelucci ◽  
G Lucarelli ◽  
LM Snyder ◽  
...  
Keyword(s):  
Membrane Proteins ◽  
Thalassemia Major ◽  
Band 3 ◽  
Beta Thalassemia ◽  
Allogeneic Bone ◽  
Globin Chain ◽  
Beta Thalassemia Major ◽  
Erythroid Precursors ◽  
Alpha Globin ◽  
Cooley's Anemia

Abstract The life threatening anemia in beta-thalassemia major (Cooley's anemia) is characterized by profound intramedullary lysis, the cause of which is incompletely understood. Using marrow obtained from beta thalassemia major patients undergoing allogeneic bone marrow transplantation in Pesaro Italy, it became possible to directly study the mechanism of the intramedullary hemolysis. Based on our previous studies, we hypothesized that the unmatched alpha globin chains would interfere with normal assembly of erythroid precursor membrane proteins. Patient and control erythroid precursors were reacted with monospecific polyclonal rabbit antibodies directed against spectrin, band 3, and band 4.1 and with a monoclonal anti-alpha globin chain antibody. Using laser confocal fluorescence microscopy, normal erythroid precursors show no alpha globin chain accumulation and exhibited uniformly smooth rim fluorescence of the three membrane proteins. In some thalassemic precursors, spectrin appeared to interact with large alpha globin accumulations, and in many of these cells the spectin appeared clumped and discontinuous. Band 4.1 interacted strongly with accumulations of alpha globin in thalassemic precursors to produce bizarrely clumped zones of abnormal band 4.1 distribution. Band 3 was incorporated smoothly into thalassemic erythroblast membranes. However, the proerythroblasts and basophilic erythroblasts were significantly deficient in band 3. Thus, accumulations of alpha globin in beta- thalassemia major colocalized with and disrupt band 4.1 and spectrin assembly into the membrane. The cause of deficient band 3 incorporation into thalassemic proerythroblast membranes remains unknown. These profound membrane alterations would likely contribute to the intramedullary lysis seen in Cooley's anemia.

scholarly journals Abnormal assembly of membrane proteins in erythroid progenitors of patients with beta-thalassemia major

Blood ◽  
1996 ◽  
Vol 87 (5) ◽  
pp. 2049-2056 ◽  
Author(s):  
M Aljurf ◽  
L Ma ◽  
E Angelucci ◽  
G Lucarelli ◽  
LM Snyder ◽  
...  
Keyword(s):  
Membrane Proteins ◽  
Thalassemia Major ◽  
Band 3 ◽  
Beta Thalassemia ◽  
Allogeneic Bone ◽  
Globin Chain ◽  
Beta Thalassemia Major ◽  
Erythroid Precursors ◽  
Alpha Globin ◽  
Cooley's Anemia

The life threatening anemia in beta-thalassemia major (Cooley's anemia) is characterized by profound intramedullary lysis, the cause of which is incompletely understood. Using marrow obtained from beta thalassemia major patients undergoing allogeneic bone marrow transplantation in Pesaro Italy, it became possible to directly study the mechanism of the intramedullary hemolysis. Based on our previous studies, we hypothesized that the unmatched alpha globin chains would interfere with normal assembly of erythroid precursor membrane proteins. Patient and control erythroid precursors were reacted with monospecific polyclonal rabbit antibodies directed against spectrin, band 3, and band 4.1 and with a monoclonal anti-alpha globin chain antibody. Using laser confocal fluorescence microscopy, normal erythroid precursors show no alpha globin chain accumulation and exhibited uniformly smooth rim fluorescence of the three membrane proteins. In some thalassemic precursors, spectrin appeared to interact with large alpha globin accumulations, and in many of these cells the spectin appeared clumped and discontinuous. Band 4.1 interacted strongly with accumulations of alpha globin in thalassemic precursors to produce bizarrely clumped zones of abnormal band 4.1 distribution. Band 3 was incorporated smoothly into thalassemic erythroblast membranes. However, the proerythroblasts and basophilic erythroblasts were significantly deficient in band 3. Thus, accumulations of alpha globin in beta- thalassemia major colocalized with and disrupt band 4.1 and spectrin assembly into the membrane. The cause of deficient band 3 incorporation into thalassemic proerythroblast membranes remains unknown. These profound membrane alterations would likely contribute to the intramedullary lysis seen in Cooley's anemia.

scholarly journals Assessment of Subclinical Renal Glomerular and Tubular Dysfunction in Children with Beta Thalassemia Major

Children ◽  
2021 ◽  
Vol 8 (2) ◽  
pp. 100
Author(s):  
Asmaa A. Mahmoud ◽  
Doaa M. Elian ◽  
Nahla MS. Abd El Hady ◽  
Heba M. Abdallah ◽  
Shimaa Abdelsattar ◽  
...  
Keyword(s):  
Cystatin C ◽  
Kidney Injury ◽  
Thalassemia Major ◽  
Beta Thalassemia ◽  
Good Survival ◽  
Control Group ◽  
Healthy Children ◽  
Serum Cystatin C ◽  
Serum Cystatin ◽  
Beta Thalassemia Major

Background: A good survival rate among patients with beta thalassemia major (beta-TM) has led to the appearance of an unrecognized renal disease. Therefore, we aimed to assess the role of serum cystatin-C as a promising marker for the detection of renal glomerular dysfunction and N-acetyl beta-D-glucosaminidase (NAG) and kidney injury molecule 1 (KIM-1) as potential markers for the detection of renal tubular injury in beta-TM children. Methods: This case-control study was implemented on 100 beta-TM children receiving regular blood transfusions and undergoing iron chelation therapy and 100 healthy children as a control group. Detailed histories of complete physical and clinical examinations were recorded. All subjected children underwent blood and urinary investigations. Results: There was a significant increase in serum cystatin-C (p < 0.001) and a significant decrease in eGFR in patients with beta-TM compared with controls (p = 0.01). There was a significant increase in urinary NAG, KIM-1, UNAG/Cr, and UKIM-1/Cr (p < 0.001) among thalassemic children, with a significant positive correlation between serum cystatin-C, NAG and KIM-1 as regards serum ferritin, creatinine, and urea among thalassemic patients. A negative correlation between serum cystatin-C and urinary markers with eGFR was noted. Conclusion: Serum cystatin-C is a good marker for detection of glomerular dysfunction. NAG and KIM-1 may have a predictive role in the detection of kidney injury in beta-TM children.

scholarly journals Left Atrial Strain Identifies Increased Atrial Ectopy in Patients with Beta-Thalassemia Major

Diagnostics ◽  
2020 ◽  
Vol 11 (1) ◽  
pp. 1
Author(s):  
Maria Vlachou ◽  
Vasileios Kamperidis ◽  
Efthymia Vlachaki ◽  
Georgios Tziatzios ◽  
Despoina Pantelidou ◽  
...  
Keyword(s):  
Blood Transfusion ◽  
Left Atrial ◽  
Systolic Pressure ◽  
Thalassemia Major ◽  
Beta Thalassemia ◽  
Tape Recording ◽  
Blood Transfusions ◽  
Systolic Strain ◽  
Peak Systolic Strain ◽  
Beta Thalassemia Major

Patients with beta-thalassemia major (β-ΤΜ) may develop cardiac arrhythmias through a multifactorial mechanism. The current study evaluated the association of cardiac structure and function on echocardiography with atrial ectopic burden on 24-hour tape recording in β-ΤΜ patients. This prospective study included consecutive β-ΤΜ patients. Demographic, laboratory, echocardiographic, cardiac magnetic resonance (CMR) T2* and 24-hour tape recording data were prospectively collected. The patients were classified according to the median value of premature atrial contractions (PACs) on 24-hour tape. In total, 50 β-TM patients (37.6 ± 9.1 years old, 50% male) were divided in 2 groups; PACs ≤ 24/day and > 24/day. Patients with PACs > 24/day were treated with blood transfusion for a longer period of time (39.0 ± 8.6 vs. 32.0 ± 8.9 years, p < 0.007), compared to their counterparts. Older age (OR: 1.121, 95% CI: 1.032–1.217, p = 0.007), longer duration of blood transfusion (OR:1.101, 95% CI:1.019–1.188, p = 0.014), larger LV end-diastolic diameter (OR: 4.522, 95% CI:1.009–20.280, p = 0.049), higher values of LA peak systolic strain (OR: 0.869, 95% CI: 0.783–0.964, p = 0.008), higher MV E/E′ average (OR: 1.407, 95% CI: 1.028–1.926, p = 0.033) and higher right ventricular systolic pressure (OR: 1.147, 95% CI: 1.039–1.266, p = 0.006) were univariably associated with PACs > 24/day. LA peak systolic strain remained significantly associated with PACs > 24/day after adjusting for the duration of blood transfusions or for CMR T2*. The multivariable model including blood transfusion duration and LA peak systolic strain was the most closely associated with PACs > 24/day. Receiver operating characteristic curve analysis identified a left atrial peak systolic strain of 31.5%, as the best cut-off value (83% sensitivity, 68% specificity) for prediction of PACs > 24/day. In β-TM patients, LA peak systolic strain was associated with the atrial arrhythmia burden independently to the duration of blood transfusions and CMR T2*.

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