Presentation
To describe very low hemoglobin A1c levels in a patient with type 2 diabetes mellitus and an unusual presentation of beta-thalassemia minor. We present the clinical and laboratory findings of the study patient. [ncbi.nlm.nih.gov]
Arcangelo Prete Affiliation not present. [doi.org]
Hematological
- Beta Thalassaemia Major
Babies with beta thalassaemia major appear to be healthy at birth, but develop symptoms of anaemia as they grow. Usually, the symptoms of beta thalassaemia major show before your baby turns two (Origa 2018). [babycentre.co.uk]
If this happens the child may develop medical problems associated with beta thalassaemia intermedia or beta thalassaemia major. [ukts.org]
If one of the beta haemoglobin genes is defective, the condition is called beta-thalassaemia minor. If both of the beta haemoglobin genes are defective, the condition is severe and is called beta-thalassaemia major, or Cooley's anaemia. [healthhub.sg]
The family, from Cadiz in southern Spain, had their first child, Andres, only to discover that he suffered from a rare hereditary disease called Beta Thalassaemia major. [web.archive.org]
There are a number of types of thalassaemia, which can be divided into alpha and beta thalassaemias. Beta thalassaemia major is the most severe type. [nhs.uk]
Entire Body System
- Anemia
Abstract Iron deficiency anemia (IDA) and thalassemia minor are two of the most common causes of microcytic anemias worldwide. [ncbi.nlm.nih.gov]
Mild anemia caused by alpha thalassemia trait might be mistaken for iron-deficiency anemia. Mild to Moderate Anemia and Other Signs and Symptoms People who have beta thalassemia intermedia have mild to moderate anemia. [web.archive.org]
Physical examination revealed anemia. Her blood pressure was normal. She was evaluated for anemia earlier elsewhere and treated as iron deficiency anemia with intravenous iron injections. [sjkdt.org]
Anemia results from this abnormal hemoglobin formation An inherited form of anemia Heterogeneous group of hereditary hemolytic anemias which have in common a decreased rate of synthesis of one or more hemoglobin polypeptide chains If you have thalassemia [icd9data.com]
- Fatigue
Abstract Beta-thalassemia minor (BTM) patients usually experience fatigue, bone pain complaint, and muscle weakness. Carnitine is an essential protein for transportation of long-chain fatty acids to the matrix for beta-oxidation. [ncbi.nlm.nih.gov]
Here are some manifestations of fatigue. Please specify if you have any. [icliniq.com]
You can also take steps on your own to cope with fatigue, such as choosing a healthy diet and exercising regularly. [mayoclinic.org]
The entire time I was in college and still today suffer greatly from constipation, severe stomach problems and chronic fatigue. I crave sweets and bread to the point to where I think its ridiculous and realize it's not normal. [easy-immune-health.com]
- Weakness
Bone pain complaint and muscle weakness decreased with carnitine. Red blood cell folate level increased after folic acid supplementation. [ncbi.nlm.nih.gov]
Affected individuals also have a shortage of red blood cells (anemia), which can cause pale skin, weakness, fatigue, and more serious complications.Two types of alpha thalassemia can cause health problems. [icdlist.com]
Nine of them complained daytime weakness. Ten patients were anemic (Hb < 13,2 g/dL for men, Conclusion: The disturbances of sleep continuity was prominent finding in this polysomnographic study. [bloodjournal.org]
[…] in the body – this is caused by the regular blood transfusions used to treat anaemia and it can cause problems with the heart, liver and hormone levels if untreated Some people experience other problems such as delayed growth, weak and fragile bones [nhs.uk]
- El Salvador
Chronic kidney disease was in the top five for Barbados, Costa Rica, El Salvador, Mexico, and Nicaragua. [ncbi.nlm.nih.gov]
Cardiovascular
- Vascular Disease
There was no history of trauma, pedal edema, varicose veins, calf pain, or a history suggestive of collagen vascular disease. Physical examination revealed the patient to have pallor. [jpgmonline.com]
Although age-standardised mortality for cardiovascular and circulatory diseases decreased by 22%, significant increases occurred for atrial fibrillation and flutter and peripheral vascular disease ( table 2 ). [ncbi.nlm.nih.gov]
Neurologic
- Dizziness
You might also experience: Dizziness Shortness of breath A fast heart beat Headache Leg cramps Difficulty concentrating Pale skin Your body will try very hard to make more red blood cells. [cdc.gov]
These may include: Pale skin Crankiness Weakness Tiredness Shortness of breath Trouble doing normal amounts of exercise (exercise intolerance) Fast heartbeat Dizziness or fainting Yellowing of the eyes, skin, or mouth, and dark urine (jaundice) Slowed [fairview.org]
Symptoms of anemia include: dizziness fatigue irritability shortness of breath weakness Anemia can also cause you to pass out. Severe cases can lead to widespread organ damage, which can be fatal. Thalassemia is genetic in nature. [healthline.com]
Severe anemia develops and is associated with fatigue, weakness, shortness of breath, dizziness, headaches, and yellowing of the skin, mucous membranes and whites of the eyes (jaundice). [rarediseases.org]
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]
Clinical Testing and Workup Physicians will take a blood sample from individuals suspected of having beta thalassemia. Several different tests can be performed on a single blood sample. [rarediseases.org]
Serum
- 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 diagnosis often is one of exclusion of other causes of microcytic anemia. In beta-thalassemia major, anemia is severe, often with hemoglobin ≤ 6 g/dL (≤ 60 g/L). [msdmanuals.com]
Microcytic anemia can be caused by iron deficiency, thalassemia, lead poisoning, sideroblastic anemia, or anemia of chronic disease. [aafp.org]
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]
Because of the very small amounts of serum required for the measurement of ferritin, it is particularly suitable for surveying populations with a high prevalence of hypochromic-microcytic anemias. © Copyright 1979 by Israel Journal Of Medical Sciences [karger.com]
- 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]
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]
These inclusions are termed Heinz bodies, depicted below. [emedicine.medscape.com]
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]
- Iron Increased
The parameters of iron status, as expected, improved after sufficient iron replacement therapy. In our patients, serum iron increased significantly with values reaching the normal range. [hindawi.com]
iron therapy, circulating IGF-I increased significantly, along with acceleration of GV and increased length SDS and BMI. [37] Isguven et al ., studied 25 prepubertal children with IDA and 25 healthy controls. [doi.org]
- Hemoglobin Decreased
Introduction Thalassemia is a term for a group of disorders in which there is reduced levels of hemoglobin, decreased red blood cell production and anemia. [rarediseases.org]
Microbiology
- Plasmodium Falciparum
This difference applies to Plasmodium vivax, which is now much more common, and to Plasmodium falciparum. We suggest that the basis for resistance to malaria in the Tharu people is a genetic factor yet to be identified. [doi.org]
falciparum parasitaemia (without symptoms); use of more detailed nature-of-injury codes; improvements to the Bayesian meta-regression method; increased simulation size for comorbidity; estimation of the prevalence of injuries by cohort; and use of a [ncbi.nlm.nih.gov]
Treatment
Other Treatments Other treatments for thalassemias have been developed or are being tested, but they're used much less often. [web.archive.org]
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 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]
Keywords: Adult, Case Report, Female, Human, Leg Ulcer, etiology,Thalassemia, complications, How to cite this article: Vagaskar S R, Fernandez R J, Mistry F P. Leg ulcer in a case of thalassemia minor (a case report). [jpgmonline.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
Khawaja AP, Springelkamp H, Creuzot-Garcher C, Delcourt C, Hofman A, Höhn R, et al.; European Eye Epidemiology (E3) Consortium. Associations with intraocular pressure across Europe: The European Eye Epidemiology (E3) Consortium. [aboonline.org.br]
Chi-Kong Li, New trend in the epidemiology of thalassaemia, Best Practice & Research Clinical Obstetrics & Gynaecology, 39, (16), (2017). [doi.org]
[…] diseases-conditions/thalassemia/basics/causes/con-20030316 http://www.nhlbi.nih.gov/health/health-topics/topics/thalassemia/causes http://www.nlm.nih.gov/medlineplus/ency/article/000587.htm http://www.ironhealthalliance.com/disease-states/thalassemia/epidemiology-and-pathophysiology.jsp [news-medical.net]
Epidemiology United States statistics The frequency of alpha thalassemia is low among whites. [emedicine.medscape.com]
We used the results to assess whether there is epidemiological convergence across countries. [ncbi.nlm.nih.gov]
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]
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]
Furthermore, one may speculate as to the pathophysiologic changes that preceded the onset of arthritis, which were probably marrow hyperplasia with secondary weakening of the trabecular bone, fracture, repair, and arthritis. References 1. [healio.com]
Prevention
We report this case to emphasize the importance of early diagnosis and treatment of NDI to prevent organic brain damage. [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]
Frequent transfusions keep their hemoglobin levels near normal and prevent many of the complications of the disease. [genome.gov]