Myelodysplastic Syndromes
Wojciech Gorczyca in Atlas of Differential Diagnosis in Neoplastic Hematopathology, 2014
Blood, apart from anemia, which is the most common finding in MDS, may show neutropenia and/or thrombocytopenia. Red blood cells are most often macrocytic, but may be normocytic (microcytic anemia is unusual for MDS). The MDS category RARS is usually associated with mean corpuscular volume (MCV) values between 100 and 105. The red cells often display anisopoikilocytosis and may show basophilic stippling. Poikilocytosis includes dacrocytes (teardropshaped cells), acanthocytes (spur-like cells), and oval macrocytes. Granulocytes are often hypogranular and hypolobated. Hypolobated granulocytes are reminiscent of inborn Pelger–Huët anomaly and are therefore called pseudo-Pelger cells. Platelets may also display atypia (including giant forms) when examined on oil magnification. Blasts, nucleated red blood cells, basophils, and micromegakaryocytes may be present on blood smear. MDS with basophilia was reported to be associated with worse outcome. Presence of 2%–4% blasts in the blood is diagnostic for RAEB-1 (even if the number of blasts in the BM is <5%) and 5%–19% for RAEB-2. Based on the WHO classification, the presence of Auer rods is diagnostic for RAEB-2, even if the number of blasts in the blood is <5%.
Haematology
Paul Bentley, Ben Lovell in Memorizing Medicine, 2019
Bloods: FBC: Hb 7–10 g/dl; MCV normalReticulocytes ↑Neutrophils ↑Film: Drapanocytes (‘sickle cells’)Anisocytosis and poikilocytosis, incl. pencil cellsTarget cellsHowell–Jolly bodies, due to hyposplenismElectrophoresis: Hb S/S (homozygote) or Hb S/A (trait)Hb F (α2γ2): ↑ 5–15%; higher levels correlate with less sickling and better prognosisSickling test: Reducing agent, e.g. Na metabisulphite, induces sickling by removing O2
Hemolytic Anemia Associated with Red Cell Membrane Defects
Harold R. Schumacher, William A. Rock, Sanford A. Stass in Handbook of Hematologic Pathology, 2019
One in 3000 individuals inherits a dominant inhibitor of the Lutheran blood group, called In(Lu). These patients have greatly suppressed expression of Lutheran antigens, CD44, and other red cell surface molecules. Red cell morphology includes acanthocytosis and poikilocytosis. Hemolysis is not significant.
A novel EPB41 p.Trp704* mutation in a Korean patient with hereditary elliptocytosis: a case report
Published in Hematology, 2020
Soyoung Shin, Kyung-Ah Hwang, Kyuhyun Paik, Joonhong Park
Hereditary elliptocytosis (HE) is a hematologic disorder characterized by elliptically-shaped erythrocytes and a variable degree of hemolytic anemia. The clinical phenotype is usually mild with peripheral blood elliptocytes, but it can be moderately severe. In severe forms that achieve hereditary poikilocytosis, large red cell fragments are torn off, leaving erythrocytes with marked poikilocytosis. Usually inherited as an autosomal dominant trait, elliptocytosis results from mutation in any one of several genes encoding proteins of the red cell membrane skeleton [1]. HE-1 is caused by heterozygous or homozygous mutation in the gene encoding erythrocyte membrane protein 4.1 (EPB41) on chromosome 1p35 [2]. HE-2 is caused by mutation in the SPTA1 gene [3]. HE-3 is caused by mutation in the SPTB gene [4]. HE-4, also known as Southeast Asian ovalocytosis, is caused by mutation in the SLC4A1 gene [5]. Particularly, the complex EPB41 gene encodes a diverse family of protein 4.1R isoforms which are key components of the erythroid membrane skeleton that regulates red cell morphology and mechanical stability [6].
Dominantly Inherited β-Thalassemia Caused by a Single Nucleotide Deletion in Exon 3 of the β-Globin Gene: Hb Xiangyang (HBB: c.393delT)
Published in Hemoglobin, 2022
Xiao-Mei Lin, Fan Jiang, Jian Li, Dong-Zhi Li
The proband was the only son of a non consanguineous couple. The boy was first noted to be anemic at 2 years of age. His red blood cell (RBC) parameters showed microcytic hypochromic features with a Hb level of 8.0–9.0 g/dL. Two transfusions were given during his growth, both for anemia aggravation caused by infection. The patient was treated once for iron deficiency anemia, but failed to improve the anemia. At the age of 6 years, the child was referred to our center for elucidation of the cause of anemia. Physical examination showed a mild splenomegaly. Peripheral blood smears showed anisocytosis and poikilocytosis, hypochromia, basophilic stippling and reticulocytosis. Heinz bodies were observed in RBC upon staining with brilliant cresyl blue. The blood counts showed a mild anemia with microcytosis and hypochromia (Table 1). Hemoglobin (Hb) electrophoresis showed borderline Hb A2 and elevated Hb F values (Figure 1). No abnormal Hb was detected by capillary electrophoresis and high performance liquid chromatography. The heat and isopropanol stability tests showed no abnormal Hb. General physical examination was normal in both parents, with normal hematological features (Table 1).
Severe α-Thalassemia Due to Compound Heterozygosity for Hb Adana (α59 Gly>Asp) (HBA1: c.179G > A) and Codon 127 (A > T) (HBA2: c.382A > T) in an Iranian Family
Published in Hemoglobin, 2020
Azam Azimi, Susan Tahmasebi, Keivan Moradi, Parham Nejati, Reza Alibakhshi
A 31-year-old Kurdish woman with a history of splenomegaly during childhood and subsequent splenectomy at the age of 10, was referred to Kermanshah Central Laboratory, Kermanshah, Iran (Figure 1, Family #1). During consultation with the proband, it was revealed that her 37-year-old sister was also splenectomized in childhood. The proband has no blood transfusion history. However, her affected sister has had two blood transfusions so far, once after a stroke and once after hospitalization due to a severe cold at the ages of 35 and 36, respectively. Analysis of the hematological profile of both affected cases of this study showed abnormal indices (Table 1). Peripheral blood smear staining with Giemsa showed poikilocytosis, hypochromia, anisocytosis, tear-drop and fragmented cells in their blood samples. Supravital staining of peripheral blood smear with methylene blue also detected Heinz bodies in the majority of red blood cells (RBCs) (Figure 2).
Related Knowledge Centers
- Acanthocyte
- Echinocyte
- Spherocytosis
- Red Blood Cell
- Codocyte
- Elliptocyte
- Hereditary Elliptocytosis
- Hereditary Stomatocytosis
- Sickle Cell Disease
- Degmacyte