Thalassemia and Moyamoya syndrome: unfurling an intriguing association

Das, Shambaditya; Dubey, Souvik; Acharya, Mrinal; Chatterjee, Subhankar; Lahiri, Durjoy; Das, Goutam; Ray, Biman Kanti; Kraemer, Markus

doi:10.1007/s00415-019-09497-5

Cited by 37 publications

(29 citation statements)

References 52 publications

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“…She had been on regular transfusion for at least 5 years before her neurological symptoms. This supports the premise that, while transfusion dependency reduces the effect of chronic tissue hypoxia, patients are still at risk of arterial thrombosis 4,13,21 . Moreover, MMS is not uncommon among patients with HbE-βthalassemia.…”

Section: Discussionsupporting

confidence: 79%

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Moyamoya Syndrome in a Child with HbEβ-Thalassemia

Zahra

Al‐Abboh

Habeeb

et al. 2021

Preprint

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Section: Discussionsupporting

confidence: 79%

“…There is no curative treatment for MMS; it is therefore imperative to search for and treat any underlying condition. The vascular occlusion tends to continue despite any known medical management 13 as in our patient, who was on aspirin therapy and regular transfusions. She is currently being considered for bypass surgery 23 .…”

Section: Discussionmentioning

confidence: 61%

Moyamoya Syndrome in a Child with HbEβ-Thalassemia

Zahra

Al‐Abboh

Habeeb

et al. 2021

Preprint

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“…Moyamoya disease has previously been associated with sickle cell disease [ 15 ]. Moyamoya has also been associated with other hemolytic anemias including hemoglobin E-beta thalassemia as well as the rare hemoglobin Fairfax with beta-thalassemia and Southampton hemoglobinopathy [ 16 – 19 ]. Putting all this into consideration, a correlation between Moyamoya and Hb Mizuho in our case is, though not proven, likely.…”

Section: Discussionmentioning

confidence: 99%

The rare hemoglobin variant Hb Mizuho: report of a Swiss family and literature review

et al. 2021

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Hb Mizuho is a very rare unstable hemoglobin; here, we describe the clinical history of three Swiss family members with Hb Mizuho together with a systematic review of the previously six published cases. The clinical history of the adult woman we report here is unique since this is the first Hb Mizuho presenting with Moyamoya complications and the first case reported with long-term erythrocyte exchange. The literature review showed that Hb Mizuho was mainly reported as a de novo mutation, with the exception of children descended from known cases. All published patients with this unstable hemoglobin showed severe hemolytic anemia with the exception of one; all were regularly transfused. Patients with higher HbF levels might require fewer transfusions. All patients underwent splenectomy at a median age of 4 years and had variable clinical improvement; some achieved complete resolution of transfusion dependency after splenectomy. Iron overload in Hb Mizuho patients seems to be mainly attributed to transfusions and has less to do with ineffective erythropoiesis. Diagnosis might be challenging; a normal hemoglobin electrophoresis should not rule out the diagnosis of unstable hemoglobin in patients with otherwise unexplained hemolytic anemia. This series shows the enormous utility of using molecular techniques for diagnosis.

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“…MMD can be associated with other diseases like Down syndrome (trisomy 21) [25], sickle cell disease [26], neurofibromatosis type 1 [27], thalassemia [28], Graves' disease [29] and after head-and neck-radiotherapy [30]. In this case, it is known as moyamoya syndrome [3].…”

Section: Introductionmentioning

confidence: 99%

Surgical Treatment of Moyamoya Disease

Vanaclocha¹,

Saiz-Sapena²,

Vanaclocha³

2021

Moyamoya Disease - A Disease to Count on in Your Daily Practice

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Moyamoya disease is a rare cerebrovascular disease most prevalent in East Asian Countries. Thanks to the new diagnostic capabilities, the number of cases discovered has been rising steadily in the latest years, including many asymptomatic patients. But asymptomatic from the clinical point of view does not necessarily mean that there are no subjacent problems and that there will be no disease progression. Indeed, many patients harbour cognitive decline long before they start with clinical or even radiological manifestations. The only effective treatment is surgical revascularization, with all its possibilities: direct, indirect, and combined. While direct techniques are more useful in adult moyamoya patients, children seem to benefit most from indirect techniques. Additionally, indirect or combined procedures can be used as salvage procedures in case of unsatisfactory outcomes. Thus, many surgeons posit that surgical treatment should be considered in moyamoya patients, even if asymptomatic, particularly in the paediatric age group.

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Thalassemia and Moyamoya syndrome: unfurling an intriguing association

Cited by 37 publications

References 52 publications

Moyamoya Syndrome in a Child with HbEβ-Thalassemia

Moyamoya Syndrome in a Child with HbEβ-Thalassemia

The rare hemoglobin variant Hb Mizuho: report of a Swiss family and literature review

Surgical Treatment of Moyamoya Disease

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