carrier diagnosis
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Author(s):  
Isaura‐Araceli González‐Ramos ◽  
Johanna‐Milena Mantilla‐Capacho ◽  
Hilda Luna‐Záizar ◽  
Jessica‐Noemi Mundo‐Ayala ◽  
Irving‐Jair Lara‐Navarro ◽  
...  

2020 ◽  
Vol 8 (2) ◽  
pp. 81-86
Author(s):  
Abdulhamza Rajooj Hmood ◽  
Rawaa Hatif Abd

Beta-thalassemia intermedia exhibits feature of ineffective erythropoiesis and hemolytic anemia. Diagnosis can be made via hemoglobin electrophoresis. G6PD deficiency is an X-linked recessive disorder commonly affecting males while females are carrier. Diagnosis is made by measuring G6PD level. A 19-year old pregnant lady, known case of β-thalassemia intermedia, had been presented with episode of acute hemolytic anemia. Investigations were highly suggestive of G6PD deficient anemia. This was confirmed with low G6PD level. Back to her immediate history, consumption of broad bean was ascertained. After appropriate therapy, the patient felt better and her medical derangement was normalized. She delivered normally and kept on life-long folic acid therapy. The importance of recording such a case report is to expect unusual combination of hemolytic anemia despite the uncommon finding of X-linked recessive disorder in women. This was the first case recorded in Karbala province


2019 ◽  
Vol 38 ◽  
pp. e52-e53
Author(s):  
M. Ammae ◽  
T. Nakano ◽  
Y. Matsumoto ◽  
H. Yamauchi ◽  
S. Ota ◽  
...  

2018 ◽  
Vol 6 (4) ◽  
pp. 308-314
Author(s):  
Abdulhamza Rajooj Hmood ◽  
Rawaa Hatif Abd

Beta-thalassemia intermedia exhibits feature of ineffective erythropoiesis and hemolytic anemia. Diagnosis can be made via hemoglobin electrophoresis. G6PD deficiency is an X-linked recessive disorder commonly affecting males while females are carrier. Diagnosis is made by measuring G6PD level. A 19-year old pregnant lady, known case of β-thalassemia intermedia, had been presented with episode of acute hemolytic anemia. Investigations were highly suggestive of G6PD deficient anemia. This was confirmed with low G6PD level. Back to her immediate history, consumption of broad bean was ascertained. After appropriate therapy, the patient felt better and her medical derangement was normalized. She delivered normally and kept on life-long folic acid therapy. The importance of recording such a case report is to expect unusual combination of hemolytic anemia despite the uncommon finding of X-linked recessive disorder in women. This was the first case recorded in Karbala province


2018 ◽  
Vol 26 (10) ◽  
pp. 1554-1557 ◽  
Author(s):  
Laura Alías ◽  
Sara Bernal ◽  
Maite Calucho ◽  
Elisabeth Martínez ◽  
Francesca March ◽  
...  

EBioMedicine ◽  
2016 ◽  
Vol 14 ◽  
pp. 139-147 ◽  
Author(s):  
Liang Hu ◽  
Dehua Cheng ◽  
Fei Gong ◽  
Changfu Lu ◽  
Yueqiu Tan ◽  
...  

Haemophilia ◽  
2008 ◽  
Vol 14 (3) ◽  
pp. 489-493 ◽  
Author(s):  
A. VENCESLÁ ◽  
M. BAENA ◽  
L. FARES TAIE ◽  
M. CORNET ◽  
M. BAIGET ◽  
...  

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