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Sickle cell disease
Published in Hung N. Winn, Frank A. Chervenak, Roberto Romero, Clinical Maternal-Fetal Medicine Online, 2021
Marc R. Parrish, John C. Morrison
The diagnosis of hemoglobinopathies, including sickle cell disorders, is made by hemoglobin electrophoresis. In the homozygous form, nearly all the hemoglobin is Hb S with small amounts of Hb A2 and Hb F. Heterozygous sickle cell trait (Hb AS) is identified by a larger percentage of Hb A and an asymptomatic course. Solubility tests (Sickledex) alone are inadequate for the diagnosis of sickle cell disorders because they cannot distinguish between the heterozygous AS and homozygous SS genotypes. In addition, they fail to detect other pathologic variants such as Hb C trait, thalassemia trait, Hb E trait, Hb B trait, and Hb D trait (3).
Swelling of the Phalanges (Bony Cysts)
Published in K. Gupta, P. Carmichael, A. Zumla, 100 Short Cases for the MRCP, 2020
K. Gupta, P. Carmichael, A. Zumla
Most patients with joint involvement often have co-existing manifestations of erythema nodosum and hilar lymphadenopathy. Arthritis usually responds well to non-steroidal antiinflammatory agents without any residual deformities. Bone pain and swelling are common features of bone infarction that may result from veno-occlusive crisis in sickle cell disease. Bone infarction may also affect other joints and organs, especially the kidneys. Chronic non-healing skin ulcers are commonly present in these patients. Haemoglobin electrophoresis is helpful in confirming the diagnosis of sickle cell anaemia.
Obstetrics and Gynaecology
Published in Seema Khan, Get Through, 2020
Routine blood tests offered at booking clinic include full blood count, blood group and antibody screen, serology for hepatitis B (not A!), syphilis, rubella and HIV. Sickle cell test and haemoglobin electrophoresis are also offered to at-risk patients.
Distribution characteristics and clinical phenotype analyses of hemoglobin variants in the Z region of Central Guangxi, Southern China
Published in Hematology, 2023
Lizhu Chen, Ning Tang, Jun Huang, Xiaobao Wei, Qingyan Zhong, Tizhen Yan, Shiqiang Luo
In this study, 15 regions divided by hemoglobin electrophoresis were classified. 1 new hemoglobin variant, Hb Anti-Lepore Liuzhou, and 9 rare hemoglobin variants were discovered and found in Z1-Z12. It is worth noting that although most of the hemoglobin variants have normal hematological phenotypes, we found that Hb Cibeles and Hb G-Siriraj have different hematological phenotypes from previous studies, when they co-inherited with thalassemia may lead to moderate or severe anemia. More data should be collected for further research. We found that some hemoglobin variants may affect other indicators, and we need to screen them in daily detection work. This study deepened our understanding of co-inheritance between hemoglobin variants and thalassemia and provided important data support for prenatal counseling and prenatal diagnosis by analyzing hemoglobin variants.
A case of Sβ+ sickle cell disease diagnosed in adulthood following acute stroke: it’s 2021, are we there yet?
Published in Journal of Community Hospital Internal Medicine Perspectives, 2021
Ava Runge, Danielle Brazel, Zahra Pakbaz
The result of patients’ post-transfusion hemoglobin electrophoresis often is misinterpreted as sickle cell trait and thalassemia trait. In our patient’s test, the low hemoglobin S was due to dilution of the patient’s hemoglobin S by transfused RBCs received during her hospitalization. Her high HbA also reflected transfused RBCs rather than the patient’s own RBCs. Co-inheritance of the sickle cell mutation with another hemoglobin variant – if in the trans position – results in sickle cell disease and there is no other interpretation. The trans position can be confirmed with family testing showing that one parent has one sickle cell mutation, and the other parent carries another pathologic beta globin mutation variant. Additionally, falsely elevated HbA2 in SCD may lead to the incorrect conclusion that the patient has beta thalassemia trait [9]. The most accurate way to confirm SCD type is genetic testing, which also provides the information necessary to offer comprehensive genetic counseling. Hypochromic microcytosis in individuals with SCD in the absence of iron deficiency may reflect additional alpha or beta globin gene abnormalities. This was true for the patient in the present case, who had an MCV of 73.7 fL and MCH of 24.1 pg in the absence of iron deficiency. She also had a partial alpha duplication in addition to a beta trait mutation, which could contribute to the increased severity of her SCD.
Long non-coding RNAs MALAT1, MIAT and ANRIL gene expression profiles in beta-thalassemia patients: a cross-sectional analysis
Published in Hematology, 2019
Abeer Fakhr-Eldeen, Eman A. Toraih, Manal S. Fawzy
The present work is a case–control study conducted on beta-thalassemia patients attending the Hematology Pediatric Unit, Sohag University Hospital, Sohag, Egypt, during the period between June 2017 and January 2018. The study population consisted of 50 consecutive patients of both sexes with confirmed diagnosis of beta thalassemia and 50 controls. Differentiation between types of beta thalassemia was carried out according to the clinical severity and the blood transfusion requirments into blood transfusion-dependent thalassemia and blood transfusion-independent thalassemia which will be referred to thalassemia major (TM) and thalassemia intermediate, respectively in the current study [25]. TM patients were on regular transfusion according to their age and body weight. Exclusion criteria included presence of acute infection at the time of blood collection, and the clinical and/or laboratory diagnosis of other types of anemia and other hemoglobinopathies. Controls were age- and sex-matched healthy children who accompanied their sibs attending the Pediatrics Clinic and had no previous history of blood transfusion for any reason during the preceding three months and have a negative family history for any hemoglobinopathies. Hemoglobin level measurements and hemoglobin electrophoresis were done for controls to exclude any blood-related disorders. The current study was approved by Ethics Review Committee, Faculty of Medicine, Sohag University. A written consent was obtained from the guardians of the patients before participation.