No abstract available.
Cholestasis* ; Hemoglobinopathies*

Background: Hemoglobinopathies as a group is one of the most common conditions confirmed through the newborn screening (NBS) program of the Philippines. This led to the increased participation of pediatric hematologists in the NBS program. Objective: The aim of the study was to assess newborn screening acceptance and knowledge of pediatric hematologists using an online questionnaire. Method: Members of the Philippine Society of Pediatric Hematology (PSPH), who are practicing pediatric hematologists in the Philippines, were invited to answer an online questionnaire. Results: Sixty members of the PSPH (65.2%) answered the survey. All the respondents are familiar with the newborn screening program. Fifty-seven respondents (95 %) have already managed a case of hemoglobinopathy identified through the newborn screening program. Differences in the approach to management and level of confidence with diagnostic test result interpretation have been noted. General themes of their concerns include being unaware of the protocol, concerns on delays in confirmatory tests, request for guidelines on follow-up, and incongruence of results with clinical picture. Conclusion The information collected may be used to develop strategies to better equip our pediatric hematologists and assist the PSPH standardize management protocols for hemoglobinopathies.
hemoglobinopathies ; newborn screening

Humans ; Hemoglobinopathies ; Hemoglobins, Abnormal/genetics*

Humans ; Hemoglobinopathies ; Hemoglobins, Abnormal/genetics* ; Oxygen

Hemoglobinopathy poses many challenges to the anesthesiologists. The central issue is the accuracy about interpretation of pulse oximetry saturation value during anesthesia. There are limited data with respect to the correlation between pulse oximetry saturation and oxygen saturation by arterial blood gas analysis in different hemoglobinopathies. We report here a case of a patient with hemoglobinopathy undergoing general anesthesia. Before the induction of anesthesia, various fractions of inspired oxygen were administered with concomitant measurement of oxygen saturation by pulse oximetry and arterial blood gas analysis. The saturation value by pulse oximetry, together with arterial blood gas analysis for oxygen tension, was used for evaluation of the patient's oxygenation status and speculation of the patient's oxygen saturation curve during the anesthesia.
Anesthesia ; Anesthesia, General ; Blood Gas Analysis ; Hemoglobinopathies ; Humans ; Oximetry ; Oxygen

Salmonella osteomyelitis is uncommon and it often develops in patients with sickle cell anemia and other hemoglobinopathy. Especially, osteomyelitis caused Salmonella typhi in a nonsickle cell patients is a very rare event. We report three cases with review of literature.
Anemia, Sickle Cell ; Hemoglobinopathies ; Humans ; Osteomyelitis ; Salmonella typhi ; Salmonella

OBJECTIVE: To explore the abnormal hemoglobinopathy in couples of child-bearing age in Chongqing. METHODS: A total of 34 800 subjects of child-bearing age were screened for thalassemia by using capillary electrophoresis from January 2015 to September 2018. PCR-flow cytometry fluorescence hybridization assay was used to detect the common thalassemia gene deletions and mutations. RESULTS: 8 kinds of abnormal hemoglobinopathy were detected in 200 cases from 34 800 subjects of child-bearing age, the detection rate was 0.57% in couples of child-bearing age in Chongqing: Among 200 cases of abnormal hemoglobin pathy, Hb E was found in 90 cases (accounting for 45.0%), and Hb D in 25 cases (accounting for 12.5%). Hb NewYork was found in 25 cases (accounting for 12.5%). HbJ-bangkok was found in 25 cases (accounting for 12.5%), and Hb Q-Thailand in 16 cases (accounting for 8.0%). Hb Hope was detected in 15 cases (accounting for 7.5%). Hb S was detected in 3 cases (accounting for 1.5%). Hb Hasharon was detected in 1 case (accounting for 0.5%). The mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH) of Hb E and Hb Q-Thailand were lower than normal reference intervals. CONCLUSION The detection rate of abnormal hemoglobinopathy in Chongqing is higher than the average level in China. Capillary electrophoresis can effectively screen abnormal hemoglobinopathy, which is great significant for aristogenesis and improvement of population quality.
Child ; China ; Electrophoresis, Capillary ; Hemoglobinopathies ; Hemoglobins, Abnormal ; Humans ; Thailand ; Thalassemia

Introduction: Thalassemias and hemoglobinopathies are autosomal-recessive red blood cell disorders affecting hemoglobin (Hb) quantity and/or quality. Clinical manifestations vary from clinically asymptomatic to transfusion dependent individuals. These disorders are global in scope and is prevalent in Southeast Asia hence screening in the Philippines is very crucial for its prevention and control. Objective: Our retrospective study aimed to determine the frequency of thalassemias and hemoglobinopathies in patients referred to the Molecular Genetics Unit, Institute of Human Genetics, National Institutes of Health, University of the Philippines, Manila for High Performance Liquid Chromatography (HPLC) screening. Methods: Blood samples from patients (n=622) sent by hematologists from different parts of the country from October 2008 to February 2015 were analyzed. Extracted whole blood samples from the subjects were anticoagulated with ethylenediaminetetraacetic acid (EDTA) and were analyzed using BIORAD VARIANT™ HPLC Testing System and VARIANT™ Beta Thalassemia Short (BTS) Program kit for the detection of abnormalities in hemoglobin. Interpretation of results were based on the submitted mean corpuscular volume (MCV), mean corpuscular hemoglobin (MCH) values, and Hb typing via HPLC of the patients. Results: Approximately twenty-nine percent (29.10%, n=181) of subjects were presumptively identified with thalassemias and hemoglobinopathies by HPLC. Beta-thalassemia trait, Hb E trait, and beta-thalassemia/Hb E disease were detected in 65 (10.45 %), 14 (2.25 %), and 3 (0.48 %) subjects, respectively. While suspected alpha-thalassemia, presumably Hb H disease, was found in 99 (15.92 %) patients. Interestingly, seventy-two percent (72.11%, n=318) of the patients with normal Hb typing via HPLC have low MCV and MCH values. Conclusion Results of this study provide the spectrum and frequency of thalassemias and hemoglobinopathies in patients referred to our laboratory for HPLC analysis.
Thalassemia ; Hemoglobinopathies ; Chromatography, High Pressure Liquid ; Erythrocyte Indices

Humans ; Hematopoietic Stem Cell Transplantation ; Hemoglobinopathies/therapy* ; Hemoglobins, Abnormal

Objective: To compare the effects of different hemolytic diseases on the level of glycosylated hemoglobin (HbA(1c)) to further explore the relationship between HbA(1c) and laboratory indexes to disclose implications of HbA(1c) in hemolytic diseases. Methods: The distribution of 192 decreased HbA(1c) cases in 4 categories of hemolytic diseases was analyzed. Laboratory indexes related to hemolysis were tested and analyzed in each kind of disease, and relationship between laboratory indexes and HbA(1)c was statistically explored. Results: Diagnoses of decreased HbA(1c) cases mainly included erythrocyte membranopathies (88 cases), immunohemolytic anemia (72 cases), hemoglobinopathy (4 cases) and erythrocyte enzymopathy (5 cases). The distribution of HbA(2) and normal HbF subjects in immunohemolytic anemia and hemoglobinopathy was significantly different from those of HbA(2) and / or abnormal HbF subjects (41.7% vs 22.0%, χ(2)=5.574, P=0.018; 0.7% vs 7.3%, P=0.031). Compared with non-hemolytic disease patients, those who suffered from 4 categories of hemolytic diseases showed lower HbA(1c) level and higher reticulocyte percentage (Ret), indirect bilirubin (IBIL) and free hemoglobin (F-Hb). Different levels of Ret, reticulocyte hemoglobin content (Ret-He), mean corpuscular volume (MCV), IBIL and F-Hb among the 4 kinds of diseases were observed, but the causes of the differences were not the same. HbA(1c) was negatively correlated with other laboratory indexes in erythrocyte membranopathies and immunohemolytic anemia. Conclusions: Hemolytic disease resulted in false lower HbA(1c), but impact of difference on HbA1c between different diseases was not significant. HbA(1c) was closely connected to laboratory indexes related to hemolysis, which might have potential implications for hemolytic diseases such as erythrocyte membranopathies and immunohemolytic anemia.
Data Analysis ; Erythrocytes ; Glycated Hemoglobin ; Hemoglobinopathies ; Hemolysis ; Humans