A mysterious appearance at zone 1

نویسندگان

چکیده

We present the case of a 76-year-old male with history Type II diabetes presenting for routine HbA1c testing. The profile via capillary electrophoresis (CE) revealed presence an unknown haemoglobin peak 19.3% in Zone 1. Blood film showed microcytosis, hypochromia, poikilocytosis and red cell dimorphism. migrated HbH position on Sebia Capillarys3 Hemoglobin(E) program High Pressure Liquid Chromatography (HPLC). Many bodies were detected Brilliant Creysl Blue (BCB) staining biochemistry was consistent haemolysis. A presumptive diagnosis acquired disease, or alpha thalassaemia-MDS (AT-MDS), determined. nature determined by previously normal indices chromatogram. AT-MDS is disorder that most commonly occurs due to rare somatic mutations ATRX gene, less chromosome 16p. There predominance (6:1) median age 68. These occur 0.2–‘.8% MDS cases produce more severe thalassaemia phenotype when compared germ line ATRX. This highlights novel diagnostic pathway disease emphasises importance investigating ‘incidental’ variants during References Cheong P (2018). Acquired myelodysplastic syndrome [PhD thesis]. University Oxford. https://ora.ox.ac.uk/objects/uuid:847c8f7f-c0d9-4272-8cac-f1c0c0ec4719 2. Steensma DP, Gibbons RJ, Higgs DR. α-thalassemia association other hematologic malignancies. 2005; 105: 443–452.

برای دانلود باید عضویت طلایی داشته باشید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

The mysterious appearance of objects

Moving from some reflections on the empirical practice of measurement and on the nature of visual perception, we present a constructivist approach to objects. At the basis of such approach there is the idea that all we may know about what is out there is always mediated by some sort of apparatus, being it a measurement instrument or our perceptual system. Given this perspective, some questions ...

متن کامل

Client Zone 1 Zone 2 Zone 3 Shard A Shard

Application programmers increasingly prefer distributed stor-age systems with strong consistency and distributed transac-tions (e.g., Google’s Spanner) for their strong guarantees andease of use. Unfortunately, existing transactional storage sys-tems are expensive to use – in part because they require costlyreplication protocols, like Paxos, for fault tolerance. In thisp...

متن کامل

Hyaluronan Synthase 1: A Mysterious Enzyme with Unexpected Functions

Hyaluronan synthase 1 (HAS1) is one of three isoenzymes responsible for cellular hyaluronan synthesis. Interest in HAS1 has been limited because its role in hyaluronan production seems to be insignificant compared to the two other isoenzymes, HAS2 and HAS3, which have higher enzymatic activity. Furthermore, in most cell types studied so far, the expression of its gene is low and the enzyme requ...

متن کامل

A mysterious ‘homesickness’

An 82-year-old female patient presented with fever and chills of two weeks’ duration. Because of pyuria on dipstick, sulfamethoxazole and trimethoprim had been empirically initiated. On admission, temperature was 38.5◦C. Blood tests showed increased C-reactive protein and creatinine serum levels (Figure A). White blood cell count was normal. Urinalysis confirmed leucocyturia (350/hpf) but urine...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

ژورنال

عنوان ژورنال: Pathology

سال: 2023

ISSN: ['1465-3931', '0031-3025']

DOI: https://doi.org/10.1016/j.pathol.2022.12.313