Jr(a) is a high-frequency antigen found in all ethnic groups. However, the clinical significance of the anti-Jr(a) antibody has remained controversial. Most studies have reported mild hemolytic disease of the newborn and fetus (HDNF) in Jr(a)-positive patients. Recently, fatal cases of HDNF have also been reported. We report the first case of HDNF caused by anti-Jr(a) alloimmunization in twins in Korea. A 33-yr-old nulliparous woman with no history of transfusion or amniocentesis was admitted at the 32nd week of gestation because of vaginal bleeding caused by placenta previa. Anti-Jr(a) antibodies were detected in a routine laboratory examination. An emergency cesarean section was performed at the 34th week of gestation, and 2 premature infant twins were delivered. Laboratory examination showed positive direct antiglobulin test and Jr(a+) phenotype in the red blood cells and the presence of anti-Jr(a) antibodies in the serum in both neonates. The infants underwent phototherapy for neonatal jaundice; this was followed by conservative management. They showed no further complications and were discharged on the 19th postpartum day. Preparative management to ensure the availability of Jr(a-) blood, via autologous donation, and close fetal monitoring must be performed even in cases of first pregnancy in Jr(a-) women.
Adult ; Blood Group Antigens/immunology ; *Blood Group Incompatibility ; Diseases in Twins/diagnosis/*immunology ; Erythroblastosis, Fetal/*diagnosis/immunology ; Female ; Gestational Age ; Humans ; Infant, Newborn ; Isoantigens/immunology ; Jaundice, Neonatal/complications/immunology/therapy ; Male ; Phenotype ; Phototherapy ; Pregnancy ; Pregnancy Complications, Hematologic/diagnosis/*immunology ; Twins

INTRODUCTION: Haemoglobinopathy testing is performed for carrier screening and evaluation of microcytic anaemia. We evaluated the effectiveness of thalassaemia screening tests at our institution and suggest ways of improving the testing algorithm. MATERIALS AND METHODS: A total of 10,084 non-antenatal and 11,364 antenatal samples with alkaline gel electrophoresis (AGE), capillary electrophoresis (CE), haemoglobin H (HbH) inclusion test, mean corpuscular haemoglobin (MCH) and mean corpuscular volume (MCV) were retrospectively reviewed. A subgroup of 187 samples with genetic testing was correlated with HbH inclusions and MCH/ MCV. The effect of iron deficiency on percentage hemoglobin A2 (HbA2) was studied. RESULTS: HbH inclusion test showed low sensitivity of 21.43% for α-thalassaemia mutations but higher sensitivity of 78.95% for deletion. By receiver operating characteristic (ROC) analysis, MCH ≤28 pg or MCV ≤80 fl for non-antenatal samples and MCH ≤27 pg or MCV ≤81 fl for antenatal samples had >98% sensitivity for HbH inclusions. Above these thresholds, the probability that HbH inclusions would be absent was <99% (negative predictive value [NPV] >99%). MCH ≥28 pg had 100% sensitivity (95% CI 95.63%-100%) for α-thalassaemia mutations and 97.68% calculated NPV in the antenatal population. Detection of haemoglobin variants by CE correlated highly with AGE (99.89% sensitivity, 100% specificity). Severe iron deficiency reduced HbA2 in hemoglobin ( <0.001) and α-thalassaemia ( = 0.0035), but not in β-thalassaemia. CONCLUSION MCH/MCV thresholds have adequate sensitivity for α-thalassaemia in the antenatal population, and genotyping plays an important role as HbH inclusion test shows low sensitivity. CE without AGE, may be used as initial screening for haemoglobin variants. Our study provides contemporary data to guide thalassaemia screening algorithms in Singapore.
Blood Protein Electrophoresis ; Electrophoresis, Capillary ; Erythrocyte Inclusions ; pathology ; Erythrocyte Indices ; Female ; Genetic Testing ; Hemoglobin H ; analysis ; Humans ; Male ; Mass Screening ; Pregnancy ; Pregnancy Complications, Hematologic ; blood ; diagnosis ; Retrospective Studies ; Sensitivity and Specificity ; Singapore ; alpha-Thalassemia ; blood ; diagnosis

OBJECTIVETo summarize and review the clinical characteristics including clinical features, prenatal characteristics, diagnosis, treatments and short-term outcomes of the twin anemia-polycythemia sequence (TAPS) to improve the recognition of the disease.

METHODThe clinical data of one case with twin anemia-polycythemia sequence and the reports of 15 cases seen in the past 5 years were reviewed and analyzed.

RESULTThere was an increasing number of reports of cases with TAPS. Prenatal manifestation: among the 16 cases, TAPS occurred in 13 cases naturally and in 3 cases occurred after laser treatment. Amniotic fluid volume showed no significant difference in 16 cases. Middle cerebral artery peak systolic velocity (MCA-PSV) > 1.5 multiples of the median (MoM) in the donor were 11/16 cases and 3/16 cases were not tested. MCA-PSV < 1.0 MoM in the recipient were seen in 10/16 cases and in 3/16 cases MCA-PSV was not tested. Hydrops fetalis was found in 6/16 cases. Intrauterine intervention: intrauterine blood transfusion was performed in 4/16 cases, fetoscopic laser occlusion of chorioangiopagus vessels was performed in 4/16 cases, umbilical cord occlusion selective feticide was done in 2/16 cases and intrauterine hemodilution in the recipient was performed in 1/16 case. Postnatal manifestation: average hemoglobin concentration in the anemic neonate was 95 g/L and in the polycythemic one was 208 g/L, intertwin Hb difference was > 80 g/L in 10/16 cases and < 80 g/L in 2/16 cases (after intrauterine laser treatment). Intertwin reticulocyte count ratio was > 1.7 in 5/16 cases and < 1.7 in 1/16 case (after intrauterine laser treatment). Postnatal treatment: 9/16 cases of donor had anemia, among them, 6/16 cases were given blood transfusions, 6/16 cases of recipient with hyperviscosity underwent partial exchange transfusions. Neurodevelopmental follow-up during neonatal period was normal in 11/16 cases, in our case, neurodevelopmental follow-up at the corrected gestational age 3 months was normal.

CONCLUSIONTAPS is a new atypical form of twin-twin transfusion syndrome (TTTS) that presents as a large intertwin hemoglobin difference with one twin developing anemia and the other developing polycythemia, without oligohydramnios-polyhydramnios sequence that is required for the diagnosis of TTTS. We suggest that routine doppler studies and MCA-PSV measurements should be performed during each follow-up visit in all uncomplicated monochorionic twin pregnancies, in order to find out the cases required intrauterine intervention to decrease neonatal mortality rates and improve the prognosis.

Anemia ; diagnosis ; etiology ; therapy ; Blood Flow Velocity ; Blood Transfusion, Intrauterine ; Female ; Fetofetal Transfusion ; complications ; diagnosis ; Gestational Age ; Hemoglobins ; analysis ; Humans ; Infant, Newborn ; Laser Coagulation ; Male ; Middle Cerebral Artery ; diagnostic imaging ; physiopathology ; Polycythemia ; diagnosis ; etiology ; therapy ; Pregnancy ; Pregnancy Complications, Hematologic ; diagnosis ; therapy ; Prognosis ; Twins, Monozygotic ; Ultrasonography, Prenatal

Propylthiouracil (PTU) is known to be a potential cause of antineutrophil cytoplasmic antibody (ANCA) positive small vessel vasculitis, resulting in glomerulonephritis and diffuse alveolar hemorrhage (DAH). Herein, we describe a 25-year-old pregnant woman who developed a perinulcear ANCA (p-ANCA) and myeloperoxidase ANCA (MPO-ANCA) positive DAH during PTU therapy. The patient improved after corticosteroid therapy and discontinuation of the PTU. Methimazole was prescribed in spite of the risk of recurrence of DAH because of the pregnancy. The patient is currently free from pulmonary problems. Our case shows that the alternative agent, methimazole, can be used to treat hyperthyroidism in a pregnant patient with PTU associated DAH.
Tomography, X-Ray Computed ; *Pulmonary Alveoli ; Propylthiouracil/*adverse effects/therapeutic use ; *Pregnancy Complications, Hematologic ; Pregnancy ; Hyperthyroidism/blood/complications/*drug therapy ; Humans ; Hemoptysis/*chemically induced/diagnosis/immunology ; Female ; Diagnosis, Differential ; Bronchoscopy ; Antithyroid Agents/*adverse effects/therapeutic use ; Antibodies, Antineutrophil Cytoplasmic/*blood ; Adult

BACKGROUND: Idiopathic thrombocytopenic purpura (ITP) is a condition that often develops in young women and, consequently, physicians should frequently manage and monitor pregnant patients with this disorder. METHODS: We reviewed the charts of 30 women with chronic ITP delivered in 31 pregnancies from January 1995 to December 2003. RESULTS: Fifteen patients were diagnosed with ITP before pregnancy and sixteen patients were diagnosed during pregnancy. The mean platelet counts before pregnancy, during pregnancy, and at delivery were 70, 040/mm3, 83, 960/mm3, and 62, 680/mm3, respectively. The symptoms of hemostatic impairment were not noted in most of the pregnancies (77%, 24/31). During pregnancy and at delivery, most of the women (61%, 19/31) received various kinds of treatment to raise platelet counts. At delivery, the most commonly used therapy was platelet transfusion (48.4%, 15/31). Seven pregnancies (22.6%) were treated with corticosteroids during pregnancy and at delivery. Five pregnancies (16.1%) were treated with IV IgG during pregnancy and at delivery. Fifteen deliveries (51.7%) were performed by cesarean section and fourteen (48.3%) with vaginal delivery. Bleeding was uncommon at delivery. There were no cases of infants with any clinical signs of hemorrhage. CONCLUSION: Our current results suggest that ITP in pregnancy can proceed safely with low hemorrhagic risk in both infants and mothers, and that mothers with ITP can deliver healthy infants without serious hemorrhagic complications.
Adult ; Chronic Disease ; Comparative Study ; *Delivery, Obstetric/methods ; Female ; Glucocorticoids/therapeutic use ; Humans ; Immunoglobulin G/administration & dosage/therapeutic use ; Immunoglobulins, Intravenous/therapeutic use ; Infant, Newborn ; Platelet Count ; Platelet Transfusion ; Pregnancy ; *Pregnancy Complications, Hematologic/blood/diagnosis ; *Pregnancy Outcome ; *Purpura, Thrombocytopenic, Idiopathic/blood/diagnosis/therapy ; Retrospective Studies