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Clinical Management of a Rare Hereditary Bleeding Disorder in an Adult: Glanzmann Thrombasthenia.
Cureus
October 2024
Internal Medicine, Sri Ramachandra Institute of Higher Education and Research, Chennai, IND.
Glanzmann thrombasthenia (GT) is a rare autosomal recessive bleeding disorder affecting the megakaryocyte lineage and is associated mainly with mucocutaneous bleeding. We herein report a woman in her early 40s, with no known comorbidities, who presented with severe gingival bleeding and severe fatigue. Past history revealed recurrent gingival bleeding, bruising, and heavy menstrual bleeding.
View Article and Find Full Text PDFUncommon Combination of Hemoglobin Jax and Hemoglobin Constant Spring Leading to Microcytic Anemia.
Am J Case Rep
May 2024
Thalassemia and Hematology Center, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand.
BACKGROUND Thalassemia and hemoglobin (Hb) variants are the most common hereditary red blood cell disorders worldwide. Alpha-thalassemia and alpha-globin variants are caused by mutations of the alpha-globin genes (HBA2 and HBA1), resulting in impaired alpha-globin production and structurally abnormal globin, respectively. Clinical severity of alpha-thalassemia correlates with the number of affected alpha-globin genes, yielding a spectrum of clinical manifestations from mild to severe anemia.
View Article and Find Full Text PDFA Case of Lynch Syndrome-Associated Colorectal Adenocarcinoma in a 19-Year-Old Female Patient.
Cureus
November 2023
Internal Medicine, The Wright Center for Graduate Medical Education, Scranton, USA.
This case report presents the diagnostic journey and management of a 19-year-old female who was diagnosed with advanced colorectal cancer (CRC) associated with Lynch syndrome (LS), a hereditary nonpolyposis colorectal cancer (HNPCC). The patient initially presented with complaints of persistent abdominal pain, vomiting, and unexplained weight loss, leading to investigations revealing hypochromic microcytic anemia and the presence of an inhomogeneous pelvic mass associated with the sigmoid colon. Subsequent diagnostic procedures, including flexible sigmoidoscopy and pathology reports, confirmed the presence of an advanced rectosigmoid adenocarcinoma with high-grade dysplasia.
View Article and Find Full Text PDFCase report: Identification of a novel triplication of alpha-globin gene by the third-generation sequencing: pedigree analysis and genetic diagnosis.
Hematology
December 2023
Department of Obstetrical, The First People's Hospital of Yunnan Province, The Affiliated Hospital of Kunming University of Science and Technology, Kunming, People's Republic of China.
Background: Thalassemia, a common autosomal hereditary blood disorder worldwide, mainly contains α- and β-thalassemia. The α-globin gene triplicates allele is harmless for carriers, but aggravates the phenotype of β-thalassemia. Therefore, it is particularly crucial to accurately detect the structural variants of α-globin gene clusters.
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