A case of beta-thalassaemia major resistant to standard treatment

Nicoletta Masera; Valentina Decimi; Luisa Tavecchia; Marietta Capra; Giovanni Cazzaniga; Andrea Biondi; Giuseppe Masera

doi:10.7175/cmi.v4i2.531

A case of beta-thalassaemia major resistant to standard treatment

Clinical Management Issues ◽

10.7175/cmi.v4i2.531 ◽

2010 ◽

Vol 4 (2) ◽

pp. 65-70

Author(s):

Nicoletta Masera ◽

Valentina Decimi ◽

Luisa Tavecchia ◽

Marietta Capra ◽

Giovanni Cazzaniga ◽

...

Keyword(s):

Clinical Condition ◽

Standard Treatment ◽

Clinical Use ◽

Thalassaemia Major ◽

Beta Thalassaemia

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.

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A 15‐years follow‐up of deferasirox in beta‐thalassaemia major patients with iron overload

British Journal of Haematology ◽

10.1111/bjh.17035 ◽

2020 ◽

Vol 191 (3) ◽

Author(s):

Zhenbin Wei ◽

Gaohui Yang ◽

Yumei Huang ◽

Peng Peng ◽

Liling Long ◽

...

Keyword(s):

Iron Overload ◽

Thalassaemia Major ◽

Beta Thalassaemia

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Prevalence of endocrine complications in beta-thalassaemia major in the Islamic Republic of Iran

Eastern Mediterranean Health Journal ◽

10.26719/2003.9.1-2.55 ◽

2003 ◽

Vol 9 (1-2) ◽

pp. 55-60

Author(s):

H. Karamifar ◽

M. Shahriari ◽

N. Sadjadian

Keyword(s):

Primary Hypothyroidism ◽

Thalassaemia Major ◽

Endocrine Dysfunction ◽

Medical Sciences ◽

Beta Thalassaemia ◽

Islamic Republic Of Iran ◽

Control And Management ◽

Endocrine Complications

Toidentify the prevalence of endocrine dysfunction in Iranians with beta-thalassaemia, we assessed thyroid, parathyroid, pancreatic and adrenal function in 150 beta-thalassaemic patients aged 10-22 years at the Paediatrics Unit, Shiraz University of Medical Sciences. Primary hypothyroidism was found in 6.0% of patients [mean age: 14.6 +/- 1.9 years], hypoparathyroidism in 7.3% [14.5 +/- 3.2 years], type 1 diabetes mellitus in 7.3% [13.9 +/- 2.8 years] and adrenal insufficiency in 1 patient. The relatively high frequency of endocrine dysfunction found in our study may be a result of poor disease control and management in early life when irreversible tissue damage occurs due to iron overload. These findings reinforce the importance of regular follow-up of patients with beta-thalassaemia major for early detection and management of associated complications

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A Low Intensity Protocol of Fludarabine, Busulfan and Cyclophosphamide Reduces Toxicity without Compromising Engraftment in Children Undergoing Allogeneic Bone Marrow Transplantation for Beta Thalassaemia Major.

Blood ◽

10.1182/blood.v108.11.5366.5366 ◽

2006 ◽

Vol 108 (11) ◽

pp. 5366-5366

Author(s):

Biju George ◽

Vikram Mathews ◽

Auro Viswabandhya ◽

Mammen Chandy ◽

Alok Srivastava

Keyword(s):

Allogeneic Bone Marrow Transplantation ◽

Graft Function ◽

Disease Free Survival ◽

Class Ii ◽

Allogeneic Bone ◽

Thalassaemia Major ◽

Class Iii ◽

Beta Thalassaemia ◽

Low Intensity

Abstract Busulfan (Bu) and Cyclophosphamide (Cy) based conditioning protocols are associated with significant morbidity and mortality in Class III (Pesaro classification) patients with beta thalassaemia major undergoing allogeneic stem cell transplantation. After IRB clearance and informed consent, we have developed a new low intensity protocol using fludarabine 30mg/m2/day for 5 days (Day - 15 to Day -11), busulfan 14 mg/kg over 4 days (Day -10 to -7) and cyclophosphamide 160 mg/kg over 4 days (Days -5 to -2). Graft versus host disease (GVHD) prophylaxis consisted of cyclosporine (5mg/kg/day) in 2 divided doses starting Day -4 and methotrexate 10 mg/m2 on Day +1 followed by 7 mg/m2 on Day +3, +6 and +11. Between January and July 2006, 14 children with Class II (n = 5) or Class III (n = 9) beta thalassaemia major were treated with this protocol. The median age was 10 years (range: 3 – 13). All patients had HLA matched related donors [sibling (13) or family (1)] with a median age of 4 years (range: 2 – 35). Ten (71%) of these transplants were sex mismatched. One patient expired on Day +10 due to an intracranial bleed while 13 (92.8%) engrafted. The median time to ANC > 500/mm3 was 17 days (range: 14–20) and platelet count > 20,000/mm3 was 25 days (range: 11 – 49). One patient had graft rejection. Two patients (14%) had grade 2 hemorrhagic cystitis and veno-occlusive disease each that resolved with conservative management. None of the patients had grade IV mucositis while 1 patient has a grade II gastro-intestinal bleed lasting 2 days that resolved with transfusion support. Acute GVHD (grade I – II) was seen in 5 patients (41.6%) and resolved in all with corticosteroids. Febrile neutropenia occurred in all but only 2 patients had a documented infection. The day 30 chimerism was complete in 10 patients (77%), > 90% donor chimerism in 2 (15.3%) with rejection in 1 patient (7.7%). At a median follow up of 4 months (range: 1–6), the overall survival (OS) is 92.8% and the disease free survival is 85.7%. We compared engraftment and toxicity with 167 patients with Class II and III Thalasssaemia treated with Bu16/Cy200 (n=116) or Bu600 mg/m2/ Cy200 (n=51) and found that the engraftment was not delayed but there was significant reduction in VOD (14% vs 53%; p=0.005) and gastrointestinal bleeding (7% vs 39%; p=0.021) with this new protocol. Conclusion: A low intensity protocol incorporating reduced doses of busulfan and cyclophosphamide in combination with fludarabine is associated with reduced toxicity and improved survival in children undergoing allogeneic BMT for Thalassaemia. Long term follow up is required to assess late toxicity and graft function.

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