Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019045 (hemoglobinopathies)
 2,704 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

This study analyzes the obstetric cases seen by 1 consultant firm at the Riyadh Military Hospital in Saudi Arabia between December 4, 1978-July 1, 1979. Of 487 patients referred to the booking clinic by primary care physicians, only 384 patients attended. Many patients were advanced in pregnancy when seen in the primary care department and were seen by the obstetricians only when admitted to the labor floor. A retrospective analysis of the notes was made and the results assessed of those patients under the care of 1 consultant firm. Patients attending the antenatal clinic underwent the routine investigations and clerking procedures. Iron deficient anemia was rarely seen (2.6%), and the need for iron or vitamin replacements was based on hematological indices. Megaloblastic anemia was detected in only 1 case. Very few abnormal hemoglobinopathies (1.6%) were found. Diabetes and rheumatic and congenital cardiac disease were occasionally seen. Grand multiparity was common, although very few problems arose. The incidence of mild preeclampsia was 2.6%, compared with 20-30% for the U.K. It was rarely necessary to resort to surgical induction for suspected post-maturity. The incidence of preterm infants was between 4.7-5%. Salbutamol was used in the obstetric unit, being the only available beta-adrenergic agonist for the suppression of uterine activity. Patients were not adverse to taking tablets during pregnancy, but they were aware that drugs can reach the baby through the mother's milk. There was no major problem with the predominantly male medical staff. Contraception was freely discussed in the clinics and wards. Patients in higher social classes found it fully acceptable, but those in lower classes always insisted on discussions with the male partner and rarely was it accepted. Hospital delivery was acceptable to many patients, yet others gave birth at home and were ignorant of the hospital facilities available. A reasonable perinatal mortality rate is reported (15/1000) but the study does not consider those patients not attending the new hospital for delivery.
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PMID:Initial findings in a new obstetric unit in Saudi Arabia. 708 Jan 67

Anemia is a common health problem but control of anemia in pregnant women is less well studied. The purpose was to study prevalence of anemia in young pregnant women, correlate with indices and study significance of identification of hemoglobinopathies. Of the 120 pregnant women, Hb was less than 8 g% in 58 (44.2%). Seventy-eight (65%) had iron deficiency, 22 (18.3%) had dimorphic anemia, and 14 (11.6%) had hemolytic anemia. Megaloblastic anemia was present in 6 (5%). Of hemolytic anemia, 50% were thalassemia trait. MCV< 76 fl was observed in 88 (73.3 %) cases. MCV<76 fl and MCH < 27 pg had 100 % sensitivity and 28.7 % specificity for screening of beta-thalassemia trait. NESTROFT had comparable sensitivity but lower specificity (14.9%). Sixty-three percent (60/78) of IDA had increased RDW whereas 78 % (11/14) of hemolytic anemia had RDW value in normal range (p value< 0.05). MCV/RBC of <14 was more specific parameter (96.8%) for beta-thalassemia trait. Four high-risk couples were identified. Thus, moderate to severe anemia was observed in most pregnant women. Hemoglobinopathies should be screened in antenatal clinics to identify the couples that would need a prenatal test. A lower MCV/RBC with RDWin the normal range may be useful in screening for thalassemia trait in pregnant women.
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PMID:Spectrum of anemia in pregnant Indian women and importance of antenatal screening. 1700 88

Anemia can result from deficient erythropoiesis [aplastic anemia, myelodysplastic syndromes (MDS), iron deficiency anemia, anemia of chronic disease (ACD), thalassemia, megaloblastic anemia, chronic renal failure, hematological malignancies, etc.], excessive RBC destruction [hereditary spherocytosis, inherited enzyme deficiency, hemoglobinopathies, autoimmune hemolytic anemia (AIHA), paroxysmal nocturnal hemoglobinuria (PNH), etc.], and blood loss. Based on the measured red cell size(MCV), anemia is classified as microcytic, normocytic, or macrocytic. Iron parameters (serum iron, serum ferritin, etc.), reticulocyte count, bone marrow examination, Coombs test, serum vitamin B12 level, and Ham test are also useful in the differential diagnosis of anemia. Novel treatment of anemia includes lenalidomide for 5q(-)MDS, azacitidine for high-risk MDS, and eculizumab for PNH. Oral iron chelator(deferasirox) developed for the treatment of transfusional iron overload is also very useful for the management of patients with bone marrow failure syndromes.
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PMID:[Pathophysiology, diagnosis and treatment of anemia]. 1832 12

A 22-year-old female was admitted with fever,disorientation and sudden decrease of vision in the emergency. Her evaluation showed tachycardia of 100/min and blood pressure of 90/70 with severe pallor. Her fundus examination showed findings of massive preretinal haemorrhage and Roth spots primarily restricted to the posterior pole. The ophthalmologist's findings were strongly suspicious of retinopathy associated with Haemoglobinopathies, blood tests revealed her to have a hemoglobin of 1.8 gm/dL and other reports suggestive of severe B12 and Folate deficiency. She also had systemic findings of gross anemia. After ruling out other causes of anemia she was finally diagnosed as a case of Megaloblastic anemia with decreased vision and retinopathy as a very noteworthy feature. She was treated with blood transfusions and B12 and Folate supplementation which showed a prompt response in the resolution of haemorrhages and once stable was discharged home.
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PMID:The eye: A lifesaver! An unusual case of Anemic Retinopathy secondary to Malnutrition and its recovery. 3311 Aug 74