HK1 haemolytic anaemia in association with a neurological phenotype and co‐existing CEP290 Meckel–Gruber in a Romani family

2021 ◽  
Author(s):  
Erina Sasaki ◽  
Ethna Phelan ◽  
Mary O'Regan ◽  
Abdul Halim Kassim ◽  
Jan Miletin ◽  
...  
Keyword(s):  
Haemolytic Anaemia ◽  
Neurological Phenotype

Evans' syndrome- haemolytic anaemia with thrombocytopenia - a rare autoimmune disorder

2017 ◽  
Vol 6 (4) ◽  
pp. 237
Author(s):  
Majed Momin ◽  
Anamika Aluri ◽  
Santhosh Reddy ◽  
NandaKishore Pasupala
Keyword(s):  
Haemolytic Anaemia ◽  
Autoimmune Disorder ◽  
Evans Syndrome

Haemolytic Anaemia: A Diagnostic Dilemma

2018 ◽  
Vol 2 (01) ◽  
pp. 29-31
Author(s):  
Md. Rezaul Karim Chowdhury ◽  
Mohammad Quamrul Hasan ◽  
Md. Haroon Ur Rashid
Keyword(s):  
Haemolytic Anaemia ◽  
Clinical Suspicion ◽  
Diagnostic Dilemma ◽  
High Clinical Suspicion ◽  
Immune Haemolytic Anaemia

It is sometime difficult to find out the cause of haemolysis in haemolytic anaemia due to inconclusive results of investigation. Diagnosis of immune haemolytic anaemia is often difficult when Coomb’s test is negative. Here we present such a case of fourteen years old girl who presented with haemolytic anaemia with negative Coomb’s test. Due to high clinical suspicion we labelled her as a case of Coomb’s negative immune haemolytic anaemia and she responded well to steroid.

Apparent Depression of Antigens of the Kell Blood Group System Associated with Autoimmune Acquired Haemolytic Anaemia

Vox Sanguinis ◽  
1972 ◽  
Vol 23 (6) ◽  
pp. 528-536
Author(s):  
Halina Seyfield ◽  
Barbara Górska ◽  
S. Maj ◽  
T. Sylwestrowicz ◽  
Carolyn Giles ◽  
...  
Keyword(s):  
Blood Group ◽  
Haemolytic Anaemia ◽  
Blood Group System ◽  
Group System

scholarly journals Mitochondrial Mistranslation in Brain Provokes a Metabolic Response Which Mitigates the Age-Associated Decline in Mitochondrial Gene Expression

2021 ◽  
Vol 22 (5) ◽  
pp. 2746
Author(s):  
Dimitri Shcherbakov ◽  
Reda Juskeviciene ◽  
Adrián Cortés Sanchón ◽  
Margarita Brilkova ◽  
Hubert Rehrauer ◽  
...  
Keyword(s):  
Gene Expression ◽  
Metabolic Response ◽  
Mitochondrial Gene ◽  
Tca Cycle ◽  
Brain Mitochondria ◽  
Mitochondrial Gene Expression ◽  
Rna Seq ◽  
The Tca Cycle ◽  
Neurological Phenotype

Mitochondrial misreading, conferred by mutation V338Y in mitoribosomal protein Mrps5, in-vivo is associated with a subtle neurological phenotype. Brain mitochondria of homozygous knock-in mutant Mrps5V338Y/V338Y mice show decreased oxygen consumption and reduced ATP levels. Using a combination of unbiased RNA-Seq with untargeted metabolomics, we here demonstrate a concerted response, which alleviates the impaired functionality of OXPHOS complexes in Mrps5 mutant mice. This concerted response mitigates the age-associated decline in mitochondrial gene expression and compensates for impaired respiration by transcriptional upregulation of OXPHOS components together with anaplerotic replenishment of the TCA cycle (pyruvate, 2-ketoglutarate).

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