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Hemolytic Anemia Associated with Red Cell Membrane Defects
Published in Harold R. Schumacher, William A. Rock, Sanford A. Stass, Handbook of Hematologic Pathology, 2019
Acanthocytes are red cells with irregular, hornlike projections. They often coexist with echinocytes, red cells with small, numerous, uniform projections. Both acanthocytes and echinocytes are present in a variety of acquired clinical conditions and may or may not be associated with hemolysis. Several distinct clinical entities have inherited hemolytic anemia with acanthocytosis as the predominant defect.
Neurogenetics
Published in John W. Scadding, Nicholas A. Losseff, Clinical Neurology, 2011
Sonia Gandhi, Sarah Tabrizi, Nicholas Wood
Neuroacanthocytosis is an umbrella term for syndromes that consist of red blood cell abnormalities (acanthocytes) and neurological features. Of these, chorea-acanthocytosis is an autosomal recessive disorder that presents in early adulthood with dystonia, chorea, tics and psychiatric features. Parkinsonism may become a prominent feature later in life. Mutations have been identified in the CHAC gene encoding a protein called chorein. There is also an X-linked form associated with the presence of Kell antigen – clinically this is indistinguishable from the recessive form.
Acute kidney injury due to thrombotic microangiopathy in a patient with primary Sjögren’s syndrome
Published in Renal Failure, 2022
Yi Wang, Xun Zhou, Xiaoyan Ma, Xinyu Yang, Yishu Wang, Min Tao, Binbin Cui, Tianyu Xiao, Shougang Zhuang, Na Liu
We described a case of monoclonal gammopathy–associated renal thrombotic microangiopathy (TMA) in a primary Sjögren’s syndrome (pSS) patient and who was successfully treated with a bortezomib-based regimen. A 66-years-old Chinese woman was admitted to our hospital with fatigue for a week and anuria for two days. Physical examination presented anemia and mild bilateral lower extremity edema. Old skin lesion could be seen in both lower limbs (Figure 1). The details of patient’s laboratory test results were listed in Table 1. Her hemoglobin (Hb) decreased from 79 g/L to 67 g/L and platelet (PLT) counts from 114 × 109/L to 83 × 109/L within five days accompanied by elevated lactate dehydrogenase (LDH) level of 1838 U/L. Her peripheral blood smear showed a small number of acanthocytes. Her blood urea nitrogen was 18.31 mmol/L, serum creatinine (Scr) was 653 μmol/L. Hypercoagulability workup revealed a high level of fibrinogen but negative anti-cardiolipin antibody immunoglobulin (Ig) G and IgM. Serum haptoglobin levels decreased from 146 to 7 mg/dL. Serum immunofixation electrophoresis detected monoclonal spikes of IgG and λ light chain. The free serum λ and κ light chain were both mildly elevated. The κ/λ-ratio was normal. Both complement C3 and C4 levels were depressed. Antinuclear antibodies, anti-neutrophil cytoplasmic antibodies, hepatitis virus, and anti-HIV-1/2 were all negative.