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Clinical Case Reports Jun 2020The case of thiamine-responsive megaloblastic anemia (TRMA) presented here speculates the need early diagnosis, continuous monitoring, follow-up, and regulated treatment...
The case of thiamine-responsive megaloblastic anemia (TRMA) presented here speculates the need early diagnosis, continuous monitoring, follow-up, and regulated treatment plan for the patients. Complications and systemic manifestations are likely to enhance in otherwise circumstances.
PubMed: 32577249
DOI: 10.1002/ccr3.2791 -
Cureus Dec 2021Vitamin B12 is an essential water-soluble vitamin that mediates multiple coenzymes needed for cell synthesis, mainly the red blood cells. Its deficiency is characterized...
Vitamin B12 is an essential water-soluble vitamin that mediates multiple coenzymes needed for cell synthesis, mainly the red blood cells. Its deficiency is characterized by megaloblastic anemia and neuropsychiatric symptoms. Macrocytosis is the classical picture seen usually, but having microcytosis is unlikely. We report a case series of three cousins with vitamin B12 deficiency who presented with microcytosis.
PubMed: 35111433
DOI: 10.7759/cureus.20741 -
Journal of Ayub Medical College,... 2023Thiamine-responsive megaloblastic anaemia (TRMA) is characterized by the classic trio of diabetes mellitus, sensorineural hearing loss, and megaloblastic anaemia,...
Thiamine-responsive megaloblastic anaemia (TRMA) is characterized by the classic trio of diabetes mellitus, sensorineural hearing loss, and megaloblastic anaemia, typically emerging subtly between infancy and adolescence. Administration of high-dose thiamine often yields improvements in anaemia and occasionally in diabetes. Uncommon manifestations include optic atrophy, congenital heart defects, short stature, and stroke. In this specific case, a 5-year-old diagnosed with insulin-dependent diabetes mellitus (IDDM) since the age of one presented with symptoms such as polyuria, fever, and vomiting, revealing an HbA1c of 10.64. Further examinations disclosed compromised hearing and vision. A negative antibody workup and a thyroid profile indicating hypothyroidism prompted additional investigations, including Brainstem Evoked Response Audiometry (BERA) and retinal examination, confirming bilateral sensorineural hearing loss and maculopathy, respectively. A comprehensive blood count unveiled megaloblastic anaemia. Genetic profiling confirmed a homozygous mutation in the SLC19A2 gene, thus diagnosing TRMA. An early diagnosis, coupled with genetic confirmation, enables timely intervention, with patients responding positively to high-dose thiamine. Genetic counselling plays a pivotal role in enlightening families about the disease and its inheritance patterns, fostering awareness and understanding.
Topics: Humans; Child, Preschool; Thiamine Deficiency; Thiamine; Anemia, Megaloblastic; Hearing Loss, Sensorineural; Hypothyroidism; Diabetes Mellitus; Membrane Transport Proteins
PubMed: 38406914
DOI: 10.55519/JAMC-S4-12486 -
Frontiers in Pediatrics 2021Thiamine-responsive megaloblastic anemia syndrome (TRMA) is a rare autosomal recessive hereditary disease due to mutations in . Some cases show familial inheritance. A...
Thiamine-responsive megaloblastic anemia syndrome (TRMA) is a rare autosomal recessive hereditary disease due to mutations in . Some cases show familial inheritance. A female patient (from a gravida 1, para 1 mother) of 3.5 years of age was admitted to the Pediatric Hematology Department of Xianyang Caihong Hospital in June 2019. The patient had severe anemia, acupoint-size bleeding spots, and a few ecchymoses all over her body, as well as astigmatism and hyperopia. Hearing was normal. The patient had diabetes. Bone marrow biopsy suggested a myelodysplastic syndrome. The patient had a c.515G>A (p.G172D) homozygous mutation of (NM_006996), indicating TRMA. Genetic testing revealed that the two alleles were inherited from her mother alone due to maternal uniparental isodisomy (UPD). The patient was treated with thiamine and a subcutaneous injection of insulin. The patient recovered well and was discharged. She continued thiamine and insulin at the same dose and was followed once a month. The last follow-up on September 15, 2020, showed no anemia or bleeding. She had a sound hearing and normal blood routine and fasting glucose levels. Hyperopia and astigmatism did not improve. The patient had TRMA induced by the c.515G>A (p.G172D) homozygous mutation of inherited through maternal UPD. The genetic diagnosis of TRMA is of significance for guiding clinical treatment. Early treatment with exogenous thiamine can improve some of the clinical features of TRMA.
PubMed: 33816400
DOI: 10.3389/fped.2021.630329 -
Health Expectations : An International... Feb 2021Patient and public involvement and engagement (PPIE) is recognized as important for improved quality in health service provision and research. Vitamin B12 deficiency is...
A patient and public involvement workshop using visual art and priority setting to provide patients with a voice to describe quality and safety concerns: Vitamin B12 deficiency and pernicious anaemia.
BACKGROUND
Patient and public involvement and engagement (PPIE) is recognized as important for improved quality in health service provision and research. Vitamin B12 deficiency is one area where PPIE has potential to benefit patients, as patients often report sub-optimal care due to diagnostic delay, insufficient treatment and poor relationships with health professionals.
OBJECTIVE
In an effort to engage an understudied patient population in health-care quality and safety discussions, and provide patients with an opportunity to have a voice, contribute to research priorities and express their current quality and safety concerns, we hosted a PPIE workshop.
METHODS
One researcher (with lived experience) facilitated a one day workshop with 12 patients with varied demographics. The workshop had four components (a) one-to-one sessions with an artist, (b) quality and safety research/education priority setting, (c) comments on research proposals, and (d) development of a PPIE group for future research.
RESULTS
All elements of the workshop elicited a number of quality and safety priorities for the group. Priority setting highlighted issues with interpretation of test results, symptom-based treatment, self-medication and relationship with primary care health-care professionals. One of the major safety issues highlighted in the visual art element was feeling ignored, silenced or not listened too by health-care professionals.
DISCUSSION
Visual art methods to express experiences of health, and research priority setting tasks achieved the aim of providing patients with an opportunity to have a voice and express concerns about health-care quality and safety issues. The addition of visual art allowed patients to articulate emotions and impacts on everyday life associated with quality and safety.
PATIENT OR PUBLIC CONTRIBUTION
A public contributor was involved in preparation of this manuscript. The event aimed to enable PPIE contribution in future research.
Topics: Anemia, Pernicious; Delayed Diagnosis; Humans; Patient Participation; Primary Health Care; Research Design
PubMed: 33180344
DOI: 10.1111/hex.13152 -
Cureus Oct 2023Background and objective Vitamin B1 deficiency can cause a variety of abnormalities in the neuropsychiatric, cardiovascular, and other systems. This condition can be...
Background and objective Vitamin B1 deficiency can cause a variety of abnormalities in the neuropsychiatric, cardiovascular, and other systems. This condition can be rapidly corrected and prevented from progressing to irreversible sequelae through vitamin B1 supplementation. Therefore, early detection of and intervention in vitamin B1 deficiency are essential. We have previously demonstrated an association between vitamin B1 deficiency and appetite loss in hospitalized older adult patients in rural Japan. This study aimed to examine the additional predictors of vitamin B1 deficiency in patients with appetite loss and other symptoms suggestive of vitamin B1 deficiency. Material and methods This cross-sectional study involved 519 patients admitted to a rural hospital between April 2020 and March 2022. Data on vitamin B1 levels, age, sex, BMI, albumin levels, functional independence measure (FIM), hemoglobin levels, Charlson Comorbidity Index (CCI), and medications were collected from electronic medical records. Vitamin B1 deficiency was defined as serum vitamin B1 level <20 µg/dL. Data were analyzed using the Mann-Whitney U test, Student's t-test, and chi-square test, followed by multivariate logistic regression to examine the predictors of vitamin B1 deficiency. Results A total of 113 patients (21.5%) were found to be vitamin B1-deficient. Multivariate logistic regression showed that anemia was significantly associated with vitamin B1 deficiency [adjusted odds ratio (AOR): 1.71, 95% confidence interval (CI): 1.07-2.73, p<0.05]. Conclusion Based on our findings, anemia is significantly associated with vitamin B1 deficiency in hospitalized Japanese patients living in rural areas. Therefore, physicians should be mindful of the possibility of vitamin B1 deficiency in hospitalized patients with anemia.
PubMed: 38021762
DOI: 10.7759/cureus.47173 -
Indian Journal of Pathology &... 2023Z score defines the shift of an observed value from the mean.
CONTEXT
Z score defines the shift of an observed value from the mean.
AIMS
By determining the direction of this shift and its absolute value for mean corpuscular hemoglobin (MCH) and mean corpuscular hemoglobin concentration (MCHC), one can quickly screen the hemogram for any spurious results in RBC parameters and also predict the type of anemia. This is because MCH and MCHC are derived parameters (from Hb, RBC, MCV) and thereby reflect the true as well as false changes in an erythrogram.
MATERIALS AND METHODS
A total of 975 hemograms were studied retrospectively. Basic statistical formulae using mean and standard deviation were applied to calculate z scores for MCH and MCHC. Results obtained were compared with the standard method and validated by an independent cohort of 100 random samples run on a different machine.
RESULTS AND STATISTICAL ANALYSIS
Z score was found to be statistically significant (p <.001) in diagnosing iron deficiency anemias, megaloblastic anemias, hemolytic anemias, regenerative anemias, anemia of chronic disease and spurious findings. Z score was not significant (p = 0.9) in predicting beta thalassemia trait. The sensitivity was low for the differentials of microcytic hypochromic anemias.
CONCLUSIONS
Despite this, Z score can be of immense help to the clinicians and pathologists in making quick interpretation of the underlying red cell abnormalities. Also, it can be used as a quality assessment tool in hematology laboratories taking pre analytical and analytical factors into account.
Topics: Humans; Retrospective Studies; Erythrocyte Indices; Anemia, Hypochromic; Anemia, Iron-Deficiency; beta-Thalassemia
PubMed: 36656216
DOI: 10.4103/ijpm.ijpm_1188_21 -
International Journal of... Apr 2021Megaloblastic anemia is a common disorder with various manifestations. Of the many causes, cobalamin or folate deficiency can eventuate into megaloblastic anemia. It can...
Megaloblastic anemia is a common disorder with various manifestations. Of the many causes, cobalamin or folate deficiency can eventuate into megaloblastic anemia. It can lead to pancytopenia and mild to moderate splenomegaly, but massive splenomegaly rarely seen in this situation. We describe a 39-year-old woman with marked enlargement of the spleen and pancytopenia that was found to have megaloblastic anemia. The splenomegaly and blood count resolved 4 months after initiation of vitamin B therapy. It is important to know massive splenomegaly may occur in megaloblastic anemia, and although it is rare, bur can reversible with early treatment.
PubMed: 34466211
DOI: 10.18502/ijhoscr.v15i2.6044 -
Saudi Pharmaceutical Journal : SPJ :... Aug 2020Folate, also known as vitamin B9, is a co-factor necessary for DNA synthesis. Folate deficiency is associated mainly with hematological findings including megaloblastic...
UNLABELLED
Folate, also known as vitamin B9, is a co-factor necessary for DNA synthesis. Folate deficiency is associated mainly with hematological findings including megaloblastic anemia and pancytopenia. Many countries have mandated grain fortification with micronutrients including folic acid resulting in a reduced prevalence of folate deficiency. Saudi Arabia imports most of the grain products and folate is usually added after milling. There are no local studies to address the folate deficiency prevalence. In this study we aimed to analyse the clinical appropriateness of ordering practice of serum Folate level.
METHOD
We reviewed all serum folate requests received at our laboratory in Aseer Central Hospital over one-year period (July 2018 June 2019). We collected patients' demographics from the electronic requests along with biochemical results of serum B12, ferritin and CBC results. We assessed appropriateness of orders against pre-specified criteria and applied statistical tests to explore for any association or significance.
RESULTS
Serum folate requests from 614 patients were received during the study period. Serum B12 (543, 88%), and serum ferritin (511, 83%) were concurrently requested. The most common reason for request, when available, was anemia. Anemia was present in (313, 51%) of the subjects for which microcytic anemia was predominant (199, 63.5%), followed by normocytic anemia (101, 33%) and only 10 subjects had macrocytic anemia (3.2%). The most common hematinics' deficiency was ferritin (30%) followed by B12 (17.2%). Serum folate deficiency was low, observed in only 2.8%. Low folate levels were not significantly different between the group with anemia and the normal hemoglobin group.
CONCLUSION
This study identifies a commonly inappropriate serum folate ordering practice that includes ordering all hematinics at the same visit without considering the possible anemia etiologies. The excessive requests might be related to doctors attempt to avoid multiple blood extractions and to try to reduce the time for diagnosis. These policies are generating unnecessary costs and time loss. Education, phasing out or restricting some tests and introducing laboratory policies like sample storing could help reduce unnecessary requests.
PubMed: 32792834
DOI: 10.1016/j.jsps.2020.06.010 -
Turk Pediatri Arsivi 2020The most important function of vitamin B12 is to accomplish DNA synthesis, which is necessary for cell division and proliferation. Deficiency of vitamin B12 causes...
AIM
The most important function of vitamin B12 is to accomplish DNA synthesis, which is necessary for cell division and proliferation. Deficiency of vitamin B12 causes megaloblastic anemia, retardation of growth, and delay in neuromotor maturation. Newborns whose mothers have vitamin B12 deficiency are born with low vitamin B12 storages, and are at risk in terms of vitamin B12 deficiency symptoms during infancy. The aim of our study was to investigate the frequency of anemia and deficiency of vitamin B12, folic acid, and iron in pregnant women living in our region, in their newborn babies, and during the infancy period of these babies. Another aim of our study was to investigate the correlation between the levels of these vitamins in newborns and in their mothers.
MATERIAL AND METHODS
In our study, 250 pregnant women at 38-42 gestational weeks, who were admitted for delivery to Gynecology and Obstetrics Clinic and their babies with a birth weight over 2500 g were included in the study.
RESULTS
We determined that 24.8% of the pregnant women had anemia, 28% had low ferritin levels, 90.4% had vitamin B 12 deficiency, and 22.4% had folic acid deficiency. Some 3.2% of the newborns had anemia, 2.8% had low ferritin levels, and 72.4% had vitamin B12 deficiency. Among the infants who presented for a follow-up visit at 6 months of age, 22.3% had anemia, 14.9% had low ferritin levels, 40.4% had vitamin B12 deficiency, and 1.06% had folic acid deficiency. In addition, we found that the levels of vitamin B12 and folic acid in newborns were related to the levels of vitamin B12 and folic acid in their mothers.
CONCLUSION
Development of low vitamin B12 stores in newborns and the development of vitamin B12 deficiency during infancy, which may result in irreversible complications including neurologic complications, can be prevented by preventing vitamin B12 deficiency during pregnancy.
PubMed: 32684759
DOI: 10.14744/TurkPediatriArs.2020.14042