Cases Of Anemia Research Articles

PRE-PROCESSING DATA ON MULTICLASS CLASSIFICATION OF ANEMIA AND IRON DEFICIENCY WITH THE XGBOOST METHOD

Anemia and iron deficiency are health problems in Indonesia and globally. In Multiclass Classification, data problems often occur, such as missing data, too many variables, and unbalanced data. Then pre-processing data will be carried out using MissForest imputation, Boruta featuring selection, and SMOTE to help improve the performance of the classification model in predicting a particular class. After the data pre-processing process is carried out, classification modeling will be carried out using the XGBoost algorithm. It was found that when pre-processing the data could improve the performance of the model in predicting multiclass classification for cases of anemia and iron deficiency in women in Indonesia by 0.815 for the accuracy value and 0.9693 for the AUC value

FREQUENCY OF 30 DAYS MORTALITY IN PATIENTS OF ST-SEGMENT ELEVATION MI WITH VARYING HEMATOCRIT LEVELS

A descriptive study was carried out in the Emergency Department of Punjab Institute of Cardiology, Lahore, from Oct 2022-April 2023 to assess the incidence of 30 days mortality in STEMI patients with varying hematocrit levels. A total of 440 cases with ST-segment elevation MI with varying hematocrit levels (anemia and erythrocytosis) were included in the study. In our study, the average age was 44.12+10.16 years, 273 (62%) were male, and 167 (37.9%) were females; frequency of different hematocrit levels was recorded, which showed that 263 (59.7%) had anemia and 177 (40.2%) had erythrocytosis. Out of 263 cases of anemia, 26 (9.8%) and out of 177 cases of erythrocytosis, 11 (6.2%) were recorded with mortality, while the remaining 237 (90.8%) cases of anemia and 166 (94.3%) of erythrocytosis had no mortality, the p-value was calculated as 0.17 which shows the insignificant difference between the two groups. We concluded that the frequency of 30 days mortality in STEMI patients is higher in anemic patients than in erythrocytosis, but hematocrit levels could be used as a biomarker for mortality in STEMI.

A Rare Case of Autoimmune Hemolytic Anemia after Implantation of a Drug Eluting Stent to Coronary Artery

A Rare Case of Autoimmune Hemolytic Anemia after Implantation of a Drug Eluting Stent to Coronary Artery

A296 Preventable long-term sequela of bariatric surgery – A case of severe anemia

A296 Preventable long-term sequela of bariatric surgery – A case of severe anemia

Severe Anemia in Sprague-Dawley Rats After Roux-en-Y Gastric Bypass Surgery.

Roux-en-Y gastric bypass (RYGB) surgery is one of the most commonly performed bariatric procedures for weight loss in humans. However, this procedure is not risk-free, and patients may experience complications that include small bowel obstruction, gastrointestinal bleeding, chronic diarrhea, ulcers, malnutrition, and anemia. In particular, anemia is a recognized long-term complication and can be severe. Rats have been used as a model to study the effects of gastric bypass surgeries. They can experience similar complications as people, but the development of severe anemia has not previously been reported in rats. We observed 2 cases of severe anemia in female Sprague-Dawley rats after RYGB surgery. These cases prompted us to further investigate the frequency and severity of anemia after RYGB in rats. Blood work and necropsies were performed on 9 additional female Sprague-Dawley rats (5 with RYGB, 4 with sham surgery). In these 9 rats, only one had signs of clinical anemia. These 3 anemic rats displayed moderate to severe pallor of the eyes and ears. Necropsy findings in anemic RYGB rats included pale internal organs and eccentric heart enlargement, which led to a significantly higher heart:body weight ratio in RYGB rats as compared with sham controls. Anemic rats had either a macrocytic normochromic anemia, consistent with vitamin B12 or folate deficiency, or microcytic hypochromic anemia, indicative of iron deficiency. Researchers who perform RYGB surgery in rats should be aware of the potential complication of severe anemia. Plans for the diagnosis and management of this complication and the development of criteria for humane endpoints for severe anemia are recommended as a refinement to these studies.

The utility of multiple genomic technologies for interpretation of modern next generation sequencing: A novel case of three FANCA gene variants resulting in autosomal recessive Fanconi anaemia

Fanconi anaemia (FA) is a rare autosomal recessive condition resulting in changes in the FANC gene family. This report describes a case of Fanconi anaemia in a family with complex biallelic variants. The patient is a 32-year-old female diagnosed with FA on cascade testing during childhood with chromosome breakage studies. On examination she had a fixed deformity of the right thumb and the proximal interphalangeal joint was immobile. Her brother shared this radial abnormality and had FA, requiring a bone marrow transplant. She presented in adulthood seeking further BRCA advice and had next generation sequencing that showed three variants in the FANCA gene. One allele a known pathogenic change, the other had two sequence variants in tandem that have been reported as variants of uncertain significance. There is one other unrelated case of these two variants occurring together in cis, resulting in Fanconi anaemia. This case is an interesting example of three variants in the FANCA gene, one allele with a pathogenic deletion and the other with a single complex allele made up of two missense variants of uncertain significance, likely manifesting with FA. It highlights the utility of different genetic technologies in the interpretation of next generation sequencing.

NEONATAL ANEMIA (ABOUT 162 CASES)

This study aims to determine the frequency of neonatal anemia, to study the etiologies and to discuss the different therapeutic modalities. During the 18-month period from January 2021 to June 2022, 162 cases of neonatal anemia were recorded among 1280 hospitalizations, representing a frequency of 12.6% with a female predominance (63.5%), the sex ratio girl / boy is 1.7. Prematurity is frequent 41.9% with a predominance in the age group 32-34SA (39.7%). The average weight is 2,830 ± 0,523kg [900g, 4400g] The mean hemoglobin level is 11.303 ± 2.218 g/dl (2-14.3). Severe neonatal anemia is estimated at 9.2%. The analysis of the etiologies in our series showed a predominance of the infectious etiology (86 cases or 53%) anemia due to hemorrhage was noted in 35 newborns, is 21.6%, hemolytic origin in 21 cases, either 12.9%, and anemia considered unexplained in 20 newborns, or 12.3%. As for the treatment, the transfusion constitutes the basis of the treatment of this anemia, however it presents well-defined indications. Exchange transfusion has become a rare act, due to the advent of phototherapy. Depending on the etiology retained, an etiological treatment was instituted. Other therapeutic measures should be discussed in order to prevent and minimize the risks of anemia, particularly in premature babies: delayed clamping of the cord, erythropoietin. transfusion is the basis of the treatment of this anemia however, it has well-defined indications. Exchange transfusion has become a rare act, due to the advent of phototherapy. Depending on the etiology retained, an etiological treatment was instituted. Other therapeutic measures should be discussed in order to prevent and minimize the risks of anemia, particularly in premature babies: delayed clamping of the cord, erythropoietin.

Association between routine cell salvage use for lower segment caesarean section and post-operative iron infusion and anemia

PurposeIntraoperative cell salvage is central to Patient Blood Management including for lower segment caesarean section. Prior to April 2020, we initiated intraoperative cell salvage during caesarean section based on risk assessment for hemorrhage and patient factors. As the pandemic broadened, we mandated intraoperative cell salvage to prevent peri-partum anemia and potentially reduce blood product usage. We examined the association of routine intraoperative cell salvage on maternal outcomes.MethodsWe conducted a single-center non-overlapping before-after study of obstetric patients undergoing lower segment caesarean section in the 2 months prior to a change in practice (‘usual care = selective intraoperative cell salvage’, n = 203) and the 2 months following (‘mandated intraoperative cell salvage’, n = 228). Recovered blood was processed when a minimal autologous reinfusion volume of 100 ml was expected. Post-operative iron infusion and length of stay were modelled using logistic or linear regression, using inverse probability weighting to account for confounding.ResultsMore emergency lower-segment caesarean sections occurred in the Usual Care group. Compared to the Usual Care group, post-operative hemoglobin was higher and anemia cases fewer in the Mandated intraoperative cell salvage group. Rates of post-partum iron infusion were significantly lower in the Mandated intraoperative cell salvage group (OR = 0.31, 95% CI = 0.12 to 0.80, P = 0.016). No difference was found for length of stay.ConclusionRoutine cell salvage provision during lower segment caesarean section was associated with a significant reduction in post-partum iron infusions, increased post-operative hemoglobin and reduced anemia prevalence.

PENYULUHAN DAN PEMERIKSAAN KADAR HEMOGLOBIN SEBAGAI SALAH SATU UPAYA DETEKSI DINI ANEMIA PADA IBU HAMIL

The high prevalence of anemia has negative consequences such as the firstdisturbance and inhibition of growth, both body cells and brain cells, while thesecond deficiency of Hb in the blood results in a lack of oxygen beingcarried/transferred to body cells and to the brain. The incidence of anemia inpregnant women in Indonesia is still high, namely 37.1, the prevalence ofanemia in pregnant women in Indonesia is 37.1%. cases of anemia in pregnant women have increased every year, namely in 2015 at the Sengkol HealthCenter as many as 200 cases, and in 2016 as many as 251 cases. Hemoglobinlevels as an early detection of anemia in pregnant women.His communityservice partner is the Chair of STIKes Yarsi Mataram and the Head of theMidwifery Study Program for the Bachelor program. This service to thecommunity uses the method of counseling and checking the hemoglobin ofpregnantwomen using the "easy touch" Hb meter. The results obtained fromthis service were the examination of 30 pregnant women in two polindes areasof the Sengkol Public Health Center, namely Tanak Awu Village and KetareVillage. From all participants, the average Hb level was 10.5 g/dL, the averageage of pregnant women was 20 years. The participants felt that this activity wasvery beneficial for them for the health of themselves and their fetus. Participantsalso hope that this community service activity can be carried out regularly

Drinking recommended daily water significantly alters haemato-biochemical parameters in prospective blood donors; a one-center quasi-experimental study in a tropical setting

BackgroundIn sub-Saharan Africa, the prevailing high ambient temperatures should warrant increased daily water intake (DWI) to prevent haemo-concentration and its potential to confound patients' laboratory data. AimTo assess the impact that the recommended DWI has on the haemato-biochemical variables in a tropical setting. Materials and methodsThis quasi-experimental study recruited 101 apparently healthy individuals (18–60 years) in the Bawku municipality. DWI, anthropometrics, and haemato-biochemical variables were assessed at baseline. Participants were encouraged to increase their DWI to ≥4 L over a 30-day period; haemato-biochemical variables were re-evaluated. Total body water (TBW) was anthropometrically estimated. ResultsThe median post-treatment DWI significantly increased; consequently, anaemia cases increased by >20-fold (2.0 % vs 47.5 % post-treatment). RBC count, platelet count, WBC count, and median haemoglobin significantly decreased compared to baseline (p < 0.0001). Biochemically, median plasma osmolality (p < 0.0001), serum sodium (p < 0.0001), serum potassium (p = 0.0012) and random blood sugar (p = 0.0403) significantly decreased. Compared to baseline, significantly higher proportion of participants classified as thrombocytopenic (8.9 % vs 3.0 %), hyponatraemia (10.9 % vs 2.0 %), or normal osmolarity (77.2 % vs 20.8 %). There were differential bivariate correlations between pre- and post-treatment haemato-biochemical variables. ConclusionSub-optimal DWI is a likely confounder in haemato-biochemical data interpretation in the tropics.

The Hematology Profiles of Adults Affiliated with Epilepsy after Receiving Valproic Acid Therapy

AIM: Epilepsy is a socially significant neurological disease spread all over the world. Valproic acid (VPA) is one of the most used antiepileptic drug (AED) for treatment which has some side effects on hematology field. A nowadays update to the adult safety information is needed. The current aim is to conduct a cross-sectional study and to describe the hematology profile of adults with epilepsy treated by VPA. MATERIALS AND METHODS: Data collection was done retrospectively and includes characteristics of the subjects such as age, gender, electroencephalography (EEG) finding, duration of VPA treatment, type of treatment, and hematology profile. We report 50 subjects treated by VPA at least 1 year. RESULTS: The mean age is 46, 4 years, 50% male and 50% female. About 92% were generalized tonic-clonic seizure. Seven percent were partial complex epilepsy. Twenty-four EEG results were abnormal (48%). We found 4 cases (7%) of thrombocytopenia at therapeutic dose and 8 cases (16%) of mild anemia. DISCUSSION: Gender differences were eliminated by having the same number of participants of each gender. The EEG findings were almost equally normal and abnormal. Reported drug reactions due to VPA were thrombocytopenia and anemia. Thrombocytopenia requires discontinuation of VPA.

Severity and Determinants of Anemia in TB/HIV Coinfected Adults at Mekelle, Ethiopia: Hospital Based Retrospective Study.

Anemia has up to 87% prevalence in high tuberculosis (TB) and human immunodeficiency virus (HIV) burden settings of the sub-Saharan Africa (SSA) including Ethiopia. It increases lost to follow-up (LTFU) rate, reduces quality of life, and shortens the survival of TB/HIV coinfected patients. However, there is limited information on severity level and determinants of anemia in TB/HIV coinfected adults in the study setting in particular. Therefore, this study is aimed to assess severity level and determinants of TB/HIV-associated anemia. A hospital based retrospective study was conducted among 305 TB/HIV coinfected adults who enrolled for antiretroviral therapy (ART) from January, 2009 to December, 2016 in two public hospital of Mekelle, Ethiopia, by reviewing ART register. A multiple logit model was fitted to identify the baseline determinants of anemia using 95% confidence level or 5% level of significance for adjusted odds ratio (AOR). In the current study, the cumulative baseline prevalence of anemia was 59.0% (95% CI: 53.3%-64.6%). Considering severity level, the prevalence was 6.2%, 28.2%, and 24.6% for severe, moderate, and mild anemia, respectively. Being female (AOR = 0.380; 95% CI: 0.226-0.640), body mass index (AOR = 0.913; 95% CI: 0.836-0.998) reduces the odds of developing anemia whereas baseline ambulatory functional status (AOR = 2.139; 95% CI: 1.189-3.846), bedridden functional status (AOR = 2.208; 95% CI: 1.002-4.863), HIV clinical stage III (AOR = 2.565; 95% CI: 1.030-6.384), and HIV clinical stage IV (AOR = 2.590; 95% CI: 1.006-6.669) increased the odds of developing anemia for TB/HIV coinfected adults. In the current study, significant TB/HIV-associated severe anemia was assessed which accounted for nearly one-ninth of all anemia cases while nearly half were moderate anemia. Therefore, curious attention has to be given for the management of TB/HIV-associated severe anemia in particular and anemia in general to reducing anemia associated bad outcomes most importantly death.

Previously Undiagnosed Anemia and Iron Deficiency Anemia among Preschool Children at Taif City

Introduction: In the Arab Gulf countries, anemia, including iron deficiency anemia )IDA(, considered one of the main public health problems. Although, the World Health Organization reported that IDA as the most common type of anemia, which made up half of all anemic cases all over the world, there were limited research performed among preschool children about anemia in Saudi Arabia. Thus, the aim of this study was to investigate the prevalence of previously undiagnosed anemia and IDA among children between 2 to 6 years old. In this study, several risk factors that might contribute to the high prevalence of anemia were assessed. Methods: The study was carried out in Taif city during the period from January 2023 to April 2023. Blood samples were collected from 200 preschool children and analyzed for hematological parameters as well as related biochemistry tests to investigate the prevalence of previously undiagnosed anemia and IDA. Results: The majority of the study participants were Saudi 99% and aged 4 to 6 years 72.5%. Most of children participants, 92.5% had normal haemoglobin (Hb) concentration and normal levels of red blood cells (RBCs) and normal hematocrit indicating their non-anemia health status. In this study, previously undiagnosed anemia were reported within 6% of children indicated by low Hb concentration, low RBC count and abnormal low hematocrit level. Out of these undiagnosed anemic children, there were 25% diagnosed with IDA. Conclusions: Since, anemia and IDA are still a public health problem among preschool children in Saudi Arabia this study suggested that the hematological blood examination should be done to students as a requirement before school which may reveal the presence of previously undiagnosed anemia and might associated with low mantle and functional performance among children. Moreover, further studies are recommended at all regions of the Kingdome to investigate the underlying related risk factors, which will provide more insight ....

TO STUDY THE PREVALENCE OF ANEMIA DUE TO NUTRITIONAL DEFICIENCY IN STUDENTS OF BAKSON HMC &amp; HOSPITAL, OF AGE GRP 18 - 22YRS- AN OBSERVATIONAL CROSS SECTIONAL SURVEY

Anaemia is a serious global public health problem that particularly affects young children and pregnant women and is commonest hematological disorders. The most common causes of anaemia include nutritional deficiencies, particularly iron deficiency, vitamins B12 and A are also important causes; haemoglobinopathies; and infectious diseases, such as malaria, tuberculosis, HIV and parasitic infections. The main objective of the study was to assess the prevalence, awareness and knowledge of anaemia among adolescence and was carried at Bakson Homoeopathic Medical College &amp; Hospital, Greater Noida. In a study 170 students were screened through random sampling methodology for anaemia out of which 116 were found to be Normal (68%), 31 having mild (18%), 23 having moderate (14%) and no one was found having severe anaemia. Early detection is important so that proactively regulate the severe condition. India has launched Anaemia Mukt Bharat (AMB) strategy in 2018, to deal with the high burden of anaemia in the country. This scheme has led to 3% reduction in anemia cases in India . Point-of-care testing (POCT) of anaemia using digital hemoglobinometers and treatment is one of the primary interventions under AMB.

DETECTION OF HAEMOGLOBIN VARIANTS USING HIGH PERFORMANCE LIQUID CHROMATOGRAPHY IN A TERTIARY CARE HOSPITAL OF NORTHEAST INDIA.

Background: The most prevalent single gene disorders in India are hereditary haemoglobin (Hb) abnormalities. Because North East India lacks information on the pattern of hemoglobinopathies and thalassemias, it was thought beneficial to research these conditions using a series of patients sent to a clinical diagnostic laboratory. To study Aimthe spectrum of different haemoglobin variants in patients with Anaemia The study is carried out for Methods: a period of one year from July 2021 to June 2022. A total number of 90 cases of anemia were studied during this period. HPLC was done using BIORAD D-10 machine and the data were analysed. Of the 90 cases, 23 was diagnosed as HbE Results: Trait, 5 as HbE Disease, 8 as β- Thalassaemia Trait, 2 as Sickle Cell Trait, 1 each as HbE- β- Thalassaemia Trait and HbD Punjab, 33 as Iron Deficiency Anaemia and 17 as Anaemia of chronic disease. There is a female preponderance of the haemoglobin variants

Association of maternal anemia with perinatal outcomes

Introduction: Anemia is one of the most prevalent nutritional deficiency problems afflicting pregnant women. Anemia that complicates pregnancy threatens the life of both the mother and the fetus. Nowadays, maternal anemia is considered as a public health problem in the world, especially in developing countries. Pregnancy increases considerably the iron needs in a mother. Iron deficiency is the most common cause for anemia during pregnancy.Aims and objectives: To assess the association of maternal anemia with perinatal outcomes. To assess the association of anemia with postpartum haemorrhage, puerperal sepsis, venous thrombosis, subinvolution of uterus, lactational failure, delayed wound healing, maternal morbidity and mortality. To determine the relationship between maternal anemia during pregnancy and intrauterine death, IUGR, infant low birth weight, APGAR scores, preterm birth, stillbirth, neonatal morbidity and mortality.Methods: A prospective observational study was conducted on 100 women who attended antenatal OPD, out of which 50 women diagnosed with iron deficiency anemia and 50 women who are non anemic and delivered at kamineni institute of medical sciences, narketpally from january 2022 to june 2022. Women whose age > 19 years and < 36 years, women with multiple gestation, gestational hypertension, pre-eclampsia, oligohydramnios, gestational diabetes mellitus, hypothyroidism, previously known case of hemolytic anemia, hemoglobinopathies such as thalassemia, sickle cell anemia, chronic renal disease, chronic liver disease, aplastic anemia and women who did not give consent to participate in the study are excluded from the study. Results: In this study of 50 anemic patients, 10 of them had mild anemia (20%), 17 of them had moderate anemia (34%), 19 of them had severe anemia (38%), 4 of them had very severe anemia (8%). Distribution according to maternal outcomes out of 50 patients, was 17 patients (34%) had IUGR, 16 patients (32%) had preterm delivery, 13 patients (26%) had delayed wound healing, 9 patients (18%) had lactational failure, 2 patients (4%) had intrauterine death. There are no cases of postpartum haemorrhage, puerperal sepsis and no maternal death. In this study of 50 patients, distribution according to neonatal outcomes was 20 patients (40%) had low birth weight, 19 patients (38%) had low APGAR scores, 7 patients (14%) had neonatal sepsis and no cases of neonatal anemia and neonatal death.Conclusion: Anemia is significantly associated with adverse maternal and neonatal outcomes and as the severity of anemia is increased, its adverse effects are even worse. Routine iron and folic acid, micronutrient supplementation regularly and whenever indicated parenteral iron infusions or blood transfusions must be done during pregnancy which prevents such adverse outcomes and has beneficial effects on the pregnancy outcome. Therefore, it is necessary for identification of anemia antenatally, prompt treatment for correction of anemia and measures to reduce the incidence of anemia in pregnancy to prevent adverse maternal and neonatal outcomes.

Development of warm autoimmune hemolytic anemia after initiation of Ruxolitinib in a patient with STAT1 gain-of-function mutation

IntroductionSTAT1 gain-of-function (GOF) disease is associated with chronic mucocutaneous candidiasis (CMC) and a broad spectrum of infectious, inflammatory, and vascular manifestations. The Janus Kinase inhibitor ruxolitinib has been used successfully for CMC and autoimmune phenomena. We describe a case of warm autoimmune hemolytic anemia (WAIHA) in a patient with STAT1 GOF disease after initiating ruxolitinib. Case reportA 36-year-old man with STAT1 c.850G>A (p.Glu284Lys) mutation presented with CMC as well as recurrent viral and bacterial infections, lymphadenopathy, enteritis, nodular regenerative hyperplasia (NRH) and splenomegaly. Immune workup confirmed a combined immunodeficiency with hypogammaglobulinemia and T-cell lymphopenia. Ruxolitinib was initiated at 5 mg twice daily (due to pre-existing thrombocytopenia) with up titration over 3 months to 20 mg twice daily. He improved with weight gain, increased energy, resolution of chronic anemia, and improved lymphadenopathy and splenomegaly on imaging. Serum CXCL9 only minimally decreased from 4660 pg/ml to 3990 pg/ml. Soon after reaching ruxolitinib 20 mg twice daily, he developed JC viremia, prompting dose reduction to 15 mg BID. Within two weeks, he developed a non-COVID upper respiratory tract infection followed by fatigue, shortness of breath with ambulation, and dark urine. Emergency evaluation revealed warm antibody positive hemolytic anemia with a hemoglobin of 5 g/dL, and worsened thrombocytopenia. He was treated with blood transfusions, pulse steroids, and high-dose IVIG with stabilization but continued hemolysis. Due to the JC viremia, there was concern to give rituximab with increased PML risk. Bone marrow showed trilineage hematopoiesis, a mild increase in megakaryocytes and RBC precursors, and a loss of B-cell progenitors with retention of mature B cells. His B and T lymphocyte numbers had increased since prior to ruxolitinib, with a predominance of Tfh1-cells (58.7% of total Tfh-cells). He was started on sirolimus with a slow taper of prednisone with continued stable hemoglobin and platelets, and resolution of hemolysis after 3 months. ConclusionTo our knowledge, this is the first case of a STAT1 GOF patient developing WAIHA while receiving ruxolitinib therapy. Treatment choices were complicated by the risks of PML. Sirolimus combined with ruxolitinib allowed wean of corticosteroid and subsequent resolution of hemolysis.

Etiological profile of hemolytic anemia

Introduction: The discovery of hemolytic anemia must lead to a precise etiological assessment guided by clinical and biological data. The aim of our study is to describe the etiological profile of hemolytic anemia cases diagnosed in the hematology laboratory of the Hassan II University Hospital in FEZ. Material and Methods: We conducted a retrospective and descriptive study of hemolytic anemia cases diagnosed between January 2017 and July 2019 and based on epidemiological and clinical data collected from computerized reports and laboratory investigations. Results: The analysis of clinicobiological records identified 100 cases of hemolytic anemias. The mean age of our patients was 36 years , with a sex ratio (F /H) of 1.5. Anemia was symptomatic in the majority of patients. The etiologies found were : neoplasia in 32 patients, systemic lupus erythematosus in 10 patients , sickle cell disease in 10 patients, immunological thrombocytopenic purpura in 7 patients, glucose-6-phosphate dehydrogenase deficiency in 7 patients, alloimmunization in 5 patients, hemolytic uremic syndrome in 5 patients, hyperthyroidism in 5 patients, thalassemia in 4 patients, microspherocytosis in 4 patients, hypersplenism in 4 patients, paroxysmal nocturnal hemoglobinuria in 1 patient , pyruvate kinase deficiency in 1 patient, Gaucher disease in 1 patient, and the use of alpha-methyl Dopa in only one patient. Conclusion: Hemolytic anemia constitute a real diagnostic challenge. Neoplasia predominate in elderly subjects while autoimmune pathologies are more frequent in young subjects.

Effect of Nutrition Therapy on Ferritin in Pregnant Women with Anemia at Gamping 2 Public Health Center

Cases of anemia in pregnant women in Indonesia are 48.9% and have the potential to endanger the safety of mother and child. Iron deficiency will cause a decrease in ferritin levels and will cause a decrease in hemoglobin levels below normal limits. Objective: to determine the effect of nutritional therapy for 2 months on serum hemoglobin and ferritin levels in anemic pregnant women in the second trimester. Experiment with a pretest-posttest control group design approach. A sample of 2nd trimester pregnant women with anemia at the Gamping II Health Center was 44 people. The sampling technique was Simple Random Sampling, divided into 2 groups, namely the case group 22 people received nutritional counseling therapy and Fe supplements and the control group 22 people received Fe supplement therapy. Both groups will compare the results of ferritin levels before and after receiving nutritional therapy for 2 months. Data collection used a ferritin test kit, sociodemographic data, obstetric history, nutritional counseling form, Fe supplement intake form. Analysis used the Independent t-test with STATA 13. Results the average ferritin of anemic pregnant women who were given nutritional counseling therapy and Fe supplements was 62.01 ng/mL, while anemic pregnant women who received Fe supplements obtained an average of 51. 4 ng/mL. The results of the statistical test obtained p value = 0.1131, which means that there was no significant difference between the ferritin levels of the intervention group and the control group.

Clinical and genetic diagnosis for 26 paitents with hereditary spherocytosis.

Hereditary spherocytosis (HS) is the most common hereditary defect of the red cell membrane, mainly characterized by anemia, jaundice, and splenomegaly. Due to the atypical clinical manifestations and negative family history of some patients, as well as the low sensitivity and specificity of traditional laboratory examinations, it is easy for it to escape diagnosis or be misdiagnosed. At present, it has been confirmed that the mutation of ANK1, SPTB, SPTA1, SLC4A1 and EPB42 genes can cause the deletion of their corresponding coding proteins, and thus lead to the defect of erythrocyte membrane. This study aims to analyze the feasibility and clinical application value of HS gene diagnosis. Data of 26 patients from Hunan, China with HS admitted to the Department of Hematology, Second Xiangya Hospital of Central South University from January 2018 to September 2021 were retrospectively collected, and their clinical manifestations and results of laboratory examinations were analyzed. Next-generation sequencing (NGS) combined with Sanger sequencing were applied. The mutation of HS pathogenic gene and the variation of uridine diphosphate-glucuronosyl transferase 1 family polypeptide A1 (UGT1A1), a key enzyme in the regulation of bilirubin metabolism, were detected. The results of pathogenic gene variations were interpreted pathogenic gene variations in accordance with the Standards and guidelines for the interpretation of sequence variants published by the American College of Medical Genetics and Genomics (ACMG). The clinical characteristics of patients with different gene variants were analyzed, and the clinical diagnosis and genetic diagnosis were compared. Among the 26 patients with HS, there were 23 cases of anemia, 25 cases of jaundice, 24 cases of splenomegaly, and 14 cases of cholelithiasis. There were 16 cases with family history and 10 cases without family history. The results of HS mutation test were positive in 25 cases and negative in 1 case. A total of 18 heterozygous mutations of HS pathogenic genes were detected in 19 families, among which 14 were pathogenic, 1 was likely pathogenic and 3 were of unknown significance. SPTB mutations (12) and ANK1 mutations (4) were the most common. The main variation types were nonsense mutation (9). There were no significant differences in peripheral blood cell parameters and hemolysis indicators between the SPTB mutant group and the ANK1 mutant group (all P>0.05). The rate of splenectomy in ANK1 mutation group was higher than that in SPTB mutation group, and the difference was statistically significant (χ2=6.970, P=0.014). There were no significant differences in peripheral blood cell parameters and hemolysis indicators among different mutation types (nonsense mutation, frameshift mutation, splice site mutation and missense mutation) (all P>0.05). Among the 18 clinically confirmedpatients, there were 17 cases whose diagnosis is consistent with the genetic diagnosis. Eight patients were clinically suspected, and all of them were confirmed by detection of HS gene mutation. Twenty-four patients with HS underwent UGT1A1 mutation detection, among which 5 patients carried UGT1A1 mutation resulting in a decrease in enzyme activity, and 19 patients had normal enzyme activity. The level of total bilirubin (TBIL) in the group with reduced enzyme activity was higher than that in the group with normal enzyme activity, and the difference was statistically significant (U=22, P=0.038). Most patients with HS have anemia, jaundice and splenomegaly, often accompanied by cholelithiasis. SPTB and ANK1 mutations are the most common mutations in HS pathogenic genes among patients in Hunan, China, and there was no significant correlation between genotype and clinical phenotype. Genetic diagnosis is highly consistent with clinical diagnosis. The decrease of UGT1A1 enzyme activity can lead to the aggravation of jaundice in HS patients. Clinical combined gene diagnosis is beneficial for the rapid and precision diagnosis of HS. The detection of UGT1A1 enzyme activity related gene variation plays an important role in evaluation of HS jaundice.