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Thalassemia Minor

Thallassemia Minor


Presentation

  • OBJECTIVE: To describe very low hemoglobin A1c levels in a patient with type 2 diabetes mellitus and an unusual presentation of beta-thalassemia minor. METHODS: We present the clinical and laboratory findings of the study patient.[ncbi.nlm.nih.gov]
  • In conclusion, the present study showed that subjects with beta-thalassemia minor are not at risk for osteoporosis.[ncbi.nlm.nih.gov]
  • The article presents the first case of thumb reconstruction with a modified wrap-around flap in a patient suffering from β-thalassemia minor.[ncbi.nlm.nih.gov]
  • CASE REPORT: A 12-year-old boy presented with seizures and developmental delay. MRI of the brain revealed intracranial calcification. Evaluation showed findings suggestive of NDI.[ncbi.nlm.nih.gov]
  • Abstract A case report of a 53 year old postmenopausal woman with severe osteoporosis occurring in association with beta thalassemia trait is presented.[ncbi.nlm.nih.gov]
Anemia
  • Abstract Iron deficiency anemia (IDA) and thalassemia minor are two of the most common causes of microcytic anemias worldwide.[ncbi.nlm.nih.gov]
  • Abstract A novel red cell discriminant function [MCV2 x RDW/(Hgb x 100)] was compared to six other discriminants in 102 patients with established mild iron deficiency anemia and 33 patients with beta-thalassemia minor.[ncbi.nlm.nih.gov]
  • Mild hemolytic anemia is not, as usually stated, a feature of this condition, which closely mimics a very mild thalassemia minor. Anemia, when found with high proportions of hemoglobin E, should not be attributed to the homozygous hemoglobinopathy.[ncbi.nlm.nih.gov]
  • The 13-month-old Chinese proband suffered anemia, diarrhea, stunted growth and emaciation.[ncbi.nlm.nih.gov]
  • Thalassemia major (Cooley anemia) is characterized by severe anemia, enlargement of the spleen, and body deformities associated with expansion of the bone marrow.[britannica.com]
Disturbance of Growth
  • BACKGROUND: Numerous disturbances in growth and development have been observed and demonstrated in homozygote beta-thalassemia patients.[ncbi.nlm.nih.gov]
Gagging
  • […] codon 17 (22/227), the A-- T mutation at position -28 of the promotor region (12/227), the frameshift codon 27/28 ( C) (6/227), the initial codon mutation (ATG-- AGG) (5/227), and one each of the codon 71/72 ( A), IVS-1 nt 1 (G-- T), IVS-1 3' end (TAG-- GAG[ncbi.nlm.nih.gov]
  • A novel alpha-thalassemia nonsense mutation in codon 23 of the alpha-2-globin gene (GAG-to-TAG) in a Tunisian family. Hemoglobin 28: 249-254, 2004. [PubMed: 15481894] Silvestroni, E., Bianco, I., Lucci, R., Soffritti, E.[ncbi.nlm.nih.gov]
  • Certification assays for HIV-1-based vectors: Frequent passage of gag sequences without evidence of replication-competent viruses . Mol Ther 2003 ;8:830–839. Crossref , Medline , Google Scholar 154 Yannaki E , Karponi G , Zervou F, et al.[doi.org]
  • Hb Hekinan observed in three Chinese from Macau: identification of the GAG-to-GAT mutation in the alpha-1-globin gene. Hemoglobin 14: 627-635, 1990. [PubMed: 1983218] Zhou, Z., Chen, L., Chen, P., Zhang, K., Wang, Y.[ncbi.nlm.nih.gov]
Asymmetrical Arthritis
  • Abstract Recurrent episodes of seronegative asymmetrical arthritis usually lasting less than a week have been observed in 4 patients with beta thalassemia minor.[ncbi.nlm.nih.gov]

Workup

  • All parameters indicate that she has TT, and there is no need for a hematologic workup. (2) A 37-year-old woman was seen in the ED for vaginal bleeding associated with uterine fibroids.[web.archive.org]
  • Complications associated with beta thalassemia Complications associated with beta thalassemia, aside from the aforementioned anemia , are as follows (see Prognosis , Presentation , Workup , Treatment , and Medication ): Extramedullary hematopoiesis Asplenia[emedicine.medscape.com]
Microcytic Anemia
  • Abstract Iron deficiency anemia (IDA) and thalassemia minor are two of the most common causes of microcytic anemias worldwide.[ncbi.nlm.nih.gov]
  • The peripheral smear showed hypochromic, microcytic anemia with poikilocytes and target cells. Sickling was absent and osmotic fragility was decreased.[jpgmonline.com]
  • A laboratory evaluation revealed a hypochromic microcytic anemia (Hemoglobin 9.8; Hematocrit 28.7; MCV 60; MCH 20.6; Reticulocyte 4.3; Platelets 375; Iron 74 (49-179); TIBC 279 (275-445); Sickle prep, negative).[healio.com]
  • The result is a very hypermetabolic bone marrow with thrombocytosis, leukocytosis and microcytic anemia in the young child prior to the enlargement of their spleen.[thalassemia.com]
  • Microcytic anemia. New England Journal of Medicine. 2014;371:1324. AskMayoExpert. Thalassemia syndrome. Rochester, Minn.: Mayo Foundation for Medical Education and Research; 2016. Benz EJ. Clinical manifestations and diagnosis of the thalassemia. .[web.archive.org]
Heinz Bodies
  • Six rare mutations, despite being heterozygote, showed hemolytic anemia which is also called, "dominant-type thalassemia", and some of them demonstrated Heinz bodies in the red blood cells.[ci.nii.ac.jp]
  • body anemia Hb-C disease Hb-D disease Hb-E disease Hemoglobinopathy NOS Unstable hemoglobin hemolytic disease Type 1 Excludes familial polycythemia ( D75.0 ) Hb-M disease ( D74.0 ) hemoglobin E-beta thalassemia ( D56.5 ) hereditary persistence of fetal[icd10data.com]
  • These inclusions are termed Heinz bodies, depicted below.[emedicine.medscape.com]
  • bodies from HbH β-thalassemia minor target, hypochromic, microcytic cells β-thalassemia major nucleated RBCs target, hypochromic, microcytic cells Hemoglobin gel-electrophoresis α-thalassemia trait normal 3 gene deletion α-thalassemia HbH (β,β,β,β) 4[medbullets.com]
Iron Increased
  • In our patients, serum iron increased significantly with values reaching the normal range. TIBC, which was high prior to iron therapy, normalized indicating good compliance to iron therapy. We used serum ferritin levels 2 – 4 ].[hindawi.com]

Treatment

  • CONCLUSION: We report this case to emphasize the importance of early diagnosis and treatment of NDI to prevent organic brain damage.[ncbi.nlm.nih.gov]
  • As corrective surgery for scoliosis is associated with major blood loss, the patient was scheduled for preoperative treatment with human recombinant erythropoietin (rHuEPO), autologous blood donation, intraoperative blood cell salvage and administration[ncbi.nlm.nih.gov]
  • OBJECTIVE: Glycated hemoglobin determination is being used worldwide to monitor the efficiency of blood glucose control and to plan treatment in diabetes mellitus patients.[ncbi.nlm.nih.gov]
  • Author information 1 Multidisciplinary Hospital for Active Treatment "St. George" Ltd., Division of Nephrology and Hemodialysis, Plovdiv, Bulgaria.[ncbi.nlm.nih.gov]
  • Treatments include blood transfusions and treatment to remove excess iron from the body. If you have mild symptoms or no symptoms, you may not need treatment. In some severe cases, you may need a bone marrow transplant.[icdlist.com]

Prognosis

  • Because of genetic risk, couples where both partners are carriers of these combinations may require prognosis and prenatal diagnosis. In these cases, recognition of the defect must be done with particular care.[ncbi.nlm.nih.gov]
  • (Outcomes/Resolutions) The prognosis of Beta Thalassemia Minor is good; individuals with the condition are able to lead a normal life.[dovemed.com]
  • Prognosis The prognosis depends on the severity of the disease and adherence to treatment: α thalassaemia The prognosis is excellent for asymptomatic carriers. The overall survival for HbH disease is good overall but variable.[patient.info]
  • Prognosis Individuals with thalassemia minor (thalassemia trait) usually have mild, asymptomatic microcytic anemia. This state does not result in mortality or significant morbidity.[emedicine.medscape.com]
  • Prognosis For silent carriers and individuals with alpha thalassemia trait, the prognosis is excellent. For individuals with HbH disease, the overall survival rate varies but is generally good, with most patients surviving into adulthood.[emedicine.medscape.com]

Etiology

  • This report presents the radiographic changes in the hip of a patient with thalassemia minor and discusses the etiology.[ncbi.nlm.nih.gov]
  • This report presents the radiographic changes in the hip of a patient with thalassemia minor and discusses the etiology. Introduction Osteoarthropathy has been well described in thalassemia major, but rarely in thalassemia minor.[healio.com]
  • By understanding the etiology of the symptoms in thalassemia, one can appreciate that certain modifiers may result in the development of milder types of thalassemia.[emedicine.medscape.com]

Epidemiology

  • Hoorfar, “Thalassemia in Iran: Epidemiology, Prevention, and Management,” Journal of Pediatric Hematol- ogy/Oncology , Vol. 29, No. 4, April 2007, pp. 233-238. [5] A. Samavat and B.[file.scirp.org]
  • Chi-Kong Li , New trend in the epidemiology of thalassaemia , Best Practice & Research Clinical Obstetrics & Gynaecology , 39 , (16) , (2017) .[doi.org]
  • Epidemiology United States statistics The frequency of alpha thalassemia is low among whites.[emedicine.medscape.com]
  • For example, there are marked differences in the epidemiology of malaria between the two study areas.[doi.org]
  • Epidemiology [ 1 ] 1.5% (80-90 million people) of the world's population are carriers of β thalassaemia and 5% are carriers of α thalassaemia. β thalassaemia is prevalent in areas around the Mediterranean, in the Middle East, in Central, South, and Southeast[patient.info]
Sex distribution
Age distribution

Pathophysiology

  • The purpose of this study was to focus on pathophysiological mechanisms linking β-thalassemia intermedia (β-TI) and minor (β-TMI) with cardiovascular risk.[ncbi.nlm.nih.gov]
  • THE term "ineffective erythropoiesis" is used to describe a pathophysiologic state in which a significant fraction of the erythropoietic activity of the bone marrow fails to produce circulating red cells with a measurable life-span. 1 , 2 Instead, much[nejm.org]
  • Prchal, MD (Salt Lake City, UT, and Prague, Czech Republic) is Professor of Medicine, Pathology, and Genetics, Hematology Division of the University of Utah, and Department of Pathophysiology, First Faculty of Medicine, Charles University in Prague.[web.archive.org]

Prevention

  • CONCLUSION: We report this case to emphasize the importance of early diagnosis and treatment of NDI to prevent organic brain damage.[ncbi.nlm.nih.gov]
  • Carnitine and folic acid together may have a role in preventing bone pain complaint and fatigue in these patients. The aim of this study is to determine the effect of carnitine and folic acid supplementation in subjects with BTM.[ncbi.nlm.nih.gov]
  • So, it is important that prevention was ensured at the stage of Thalassemia minor with the help of awareness and increased literacy, he opined.[thehindu.com]
  • Increased awareness is the key to prevention.[thalassemia.ca]

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