The first case report of neuroacanthocytosis in Thailand: Utilization of a peripheral blood smear technique for detecting acanthocytes

2010 ◽  
Vol 112 (6) ◽  
pp. 541-543 ◽  
Author(s):  
Natlada Kanjanasut ◽  
Priya Jagota ◽  
Roongroj Bhidayasiri
Author(s):  
Maria Christina Shanty Larasati ◽  
Mangihut Rumiris ◽  
Mia Ratwita Andarsini ◽  
I Dewa Gede Ugrasena ◽  
Bambang Permono

Thalassemias are heterogeneous group of genetic disorders. β-thalassemia is existed due to impaired production of beta globins chains, which leads to a relative excess of alpha globin chains. The abnormalities of haemoglobin synthesis are usually inherited but may also arise as a secondary manifestation of another disease, most commonly haematological neoplasia. This article presenting two cases of acquired β-thalassemia in children with ALL focusing on the diagnosis and the possible relationship between the two haematological diseases. The first case is a four (4) year old boy with ALL-L1 type at maintenance phase of chemotherapy, he suffered from anaemia with Hb 8.0 g/dL, WBC 22,600/mm3 and platelets count of 200,000/mm3, peripheral blood smear revealed anisocytosis, polychromes, hypochromia, basophilic stippling, and normoblastocytes. The result of Hb electrophoresis of Hb A of 54.9%, Hb F of 29.4%, Hb E of 13.4% and Hb A2 of 2.3%. The patient was diagnosed as ALL-L1 type and β-thalassemia. The second case, is a 13 year old girl with remission ALL-L1 type after chemotherapy, she suffered from anaemia with Hb 6.7 g/dL, WBC 12,400/mm3, platelet count was 200,000/mm3, and peripheral blood smear obtained anisocytosis, hypochromia, normoblastocytes, myelocytes and basophilic stippling. The result of Hb electrophoresis are: Hb F 0.41%, Hb A1c 0.78%, Hb A2 2.95% with the conclusion of a β-thalassemia trait, this patient was diagnosed with ALL-L1 type remission + β-thalassemia trait. The case reviewers assume that acquired β-thalassemia which happened in those patients were the altered expression of globin chain which mechanism for this syndrome might be the acquisition of a mutation that affects RNA or proteins involved in β-globin gene regulation and resulting the reduction of the (α/β)-globin biosynthetic ratios, or/and associated with chemotherapy-inducement.


2015 ◽  
Vol 180 (1-2) ◽  
pp. 111-116 ◽  
Author(s):  
Yuji Hirai ◽  
Sayaka Asahata ◽  
Yusuke Ainoda ◽  
Takahiro Fujita ◽  
Hitomi Miura ◽  
...  

Author(s):  
Bhavna Nayal ◽  
S Niveditha ◽  
Veena ◽  
M Chethan

2010 ◽  
Vol 52 (2) ◽  
pp. 107-110 ◽  
Author(s):  
Juan Nunura ◽  
Tania Vásquez ◽  
Sergio Endo ◽  
Daniela Salazar ◽  
Alejandrina Rodriguez ◽  
...  

We report a case of severe toxoplasmosis in an immunocompetent patient, characterized by pneumonia, retinochoroiditis, hepatitis and myositis. Diagnosis was confirmed by serology, T. gondii in thick blood smear and presence of bradyzoites in muscle biopsy. Treatment with pyrimethamine plus sulfadoxine was successful but visual acuity and hip extension were partially recovered. This is the first case report of severe toxoplasmosis in an immunocompetent patient from Peru.


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