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Query: UMLS:C0039730 (thalassemia)
 10,305 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Female patients with beta-thalassaemia major usually suffer from hypogonadotropic hypogonadism associated with amenorrhea, anovulation and infertility, attributed to the deposition of haemosiderin in the pituitary gland as well as in the ovaries. Pregnancies are rare and, with few exceptions, occur mainly in patients with beta-thalassaemia intermedia. Our study presents histopathological evidence that deposition of haemosiderin occurs in the endometrial glandular epithelium of 3 patients with beta-thalassaemia major. This deposition is mainly evident in the apical part of these cells above the nuclei, and should be taken into consideration as a contributing factor to the infertility in these patients by altering endometrial receptivity for implantation. In 2 patients who received effective iron chelating treatment with desferrioxamine the endometrial haemosiderin deposits either disappeared (patient C.R.), or were significantly reduced (patient G.L.).
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PMID:Endometrial glandular haemosiderosis in homozygous beta-thalassaemia. 275 23

Homozygous beta-thalassaemia (thalassaemia major) is a severe, transfusion-dependent anaemia that also causes infertility due to endocrine impairment. Very few pregnancies are reported among such patients and there is only one report in the literature referring to a pregnancy achieved with ovulation induction and intra-uterine insemination. We report here the first successful twin pregnancy following in-vitro fertilization and tubal embryo transfer in a transfusion-dependent homozygous beta-thalassaemic woman with an oligoasthenozoospermic partner. Prior to ovarian stimulation, desferrioxamine was discontinued due to potential fetotoxicity. Pre-gestational transfusional and chelating therapies were resumed after delivery. In such patients, ovulation induction and assisted reproductive techniques appear crucial in achieving pregnancy with concurrent haematological balance without desferrioxamine administration.
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PMID:Transfusion-dependent homozygous beta-thalassaemia major: successful twin pregnancy following in-vitro fertilization and tubal embryo transfer. 784 35

Impaired reproduction is common among patients afflicted with beta-thalassaemia major and is attributed mainly to the deposition of haemosiderin in the pituitary gland and ovaries. In-vitro fertilization (IVF)--embryo transfer cycles including ovum donation cycles are described for the first time in a patient with beta-thalassaemia major. The patient's oocytes were not fertilized by the husband's sperm in repeated IVF attempts. However, when donated oocytes were used, in two consecutive cycles, most were fertilized by the husband, yielding pregnancies after each embryo transfer. It is suggested that in this case of beta-thalassaemia major, impaired oocyte function contributed to infertility. However, a possible association between thalassaemia major and defective oocytes should be tested on a basis of additional IVF-embryo transfer cycles in these patients.
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PMID:Defective oocytes as a possible cause of infertility in a beta-thalassaemia major patient. 796 90

The literature relating to homozygous beta-thalassemia and the problems these patients have during their pregnancy is reviewed and another case report of a twin pregnancy in a homozygous beta-thalassemia individual is included. The majority of cases described refer to the intermedia clinical form of the hematological problem because patients with thalassemia major generally have poor sexual development. Although the reported cases had a greater frequency of delayed development, only one woman suffered from infertility and required ovulation induction agents. The thalassemia pregnant mother faces deleterious consequences resulting from chronic anemia and in nonsplenectomized patients there remains the risk of the onset of a hypersplenic crisis. The problems of splenectomized patients during pregnancy is also discussed. The chronic anemia of thalassemic patients predisposes to a poor fetal outcome with greater fetal loss, preterm labor, and intrauterine growth retardation.
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PMID:Beta-thalassemia syndromes and pregnancy. 816 11

beta-Thalassaemia major is a severe, transfusion-dependent anaemia that also causes infertility due to iron deposition to endocrine organs. Very few pregnancies have been reported among such patients. In this report we describe the evolution and successful outcome of pregnancy in 5 Greek women with beta-thalassaemia major. There were four full-term and one preterm deliveries of two normal and three small for the date neonates. Cardiovascular changes related to gestation may aggravate the underlying multiorgan damage of the pregnant mother and predispose to poor fetal growth and development. All five patients followed a strict transfusion regimen in order to maintain the haemoglobin level above 10 g/dl. The inadvertent administration of desferrioxamine in one patient until the 8th gestational week did not seem to have any serious effects on the development and well-being of the fetus. Although pregnancy is not contraindicated in beta-thalassaemia major, intensive individualized care is required if it is to be safe for the mother, and have a reasonably good chance of producing a healthy child.
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PMID:Transfusion-dependent homozygous beta-thalassaemia major: successful pregnancy in five cases. 930 4

India, like other developing countries, is facing an accelerating demographic switch to non-communicable diseases. In the cities congenital malformations and genetic disorders are important causes of morbidity and mortality. Due to the high birth rate in India a very large number of infants with genetic disorders are born every year almost half a million with malformations and 21,000 with Down syndrome. In a multi-centric study on the causes of referral for genetic counselling the top four disorders were repeated abortions (12.4%), identifiable syndromes (12.1%), chromosomal disorders (11.3%) and mental retardation (11%). In a more recent study in a private hospital the top reasons for referral were reproductive genetics (38.9%)--comprising prenatal diagnosis, recurrent abortions, infertility and Torch infections--mental retardation +/- multiple congenital anomalies (16.1%), Down syndrome (9.1%), thalassemia/haemophilia (8.8%), and muscle dystrophy/spinal muscular atrophy (8.4%). The disorders for which prenatal has been done over an 18-month-period are given. A recent study carried out in three centers (Mumbai, Delhi and Baroda) on 94,610 newborns by using a uniform proforma showed a malformation frequency of 2.03%, the commonest malformations are neural tube defects and musculo-skeletal disorders. The frequency of Down syndrome among 94,610 births was 0.87 per 1000, or 1 per 1150. Screening of 112,269 newborns for aminoacid disorders showed four disorders to be the commonest--tyrosinemia, maple syrup urine disease and phenylketonuria. Screening of cases of mental retardation for aminoacid disorders revealed four to be the commonest--hyperglycinemia, homocystinuria, alkaptonuria, and maple syrup urine disease. Metabolic studies of cases of mental retardation in AIIMS, Delhi and KEM Hospital, Mumbai, demonstrated that common disorders were those of mucopolysaccharides, lysosomes, Wilson disease, glycogen storage disease and galactosemia. It is estimated that beta- thalassemia has a frequency at birth of 1:2700, which means that about 9,000 cases of thalassemia major are born every year. Almost 5200 infants with sickle cell disease are born every year. Disorders, which deserve to be screened in the newborn period, are hypothyroidism and G-6-PD deficiency, while screening for aminoacid and other metabolic disorders could presently be restricted to symptomatic infants.
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PMID:Burden of genetic disorders in India. 1126 88

Women with transfusion dependent thalassaemia suffer from failure of pubertal growth and delayed onset of menarche with amenorrhea, anovulation and infertility. With improved pediatric and hematological care is now possible, for patients with b thalassaemia, to achieve a pregnancy. Pre-pregnancy assessment included checks for hypothyroidism and diabetes, for hepatitis B and C, human immunodeficiency virus, Rubella, cardiac functions, liver functions by estimating aspartate and alanine aminotransferases, gamma-glutamyl transpeptidase, alkaline phospatase, and total plasma proteins. The frequency of blood transfusion needed to be increased in order to maintain the hemoglobin concentration above 10 g/dl. Desferroxamine must be stopped as soon as pregnancy is diagnosed continuing the administration of the folic acid supplements throughout pregnancy. Desferroxamine will be resumed after delivery. The safety of iron chelation with desferroxamine during the periconceptional period and pregnancy has not yet been established. Some animal studies have shown skeletal anomalies; other published studies report seven women with b thalassaemia major who became pregnant while taking desferroxamine: all the women had normal babies. The mode of delivery is usually vaginal, while Cesarean section is performed in those cases with pre-eclampsia, fetal distress, cephalopelvic dysproportion, slow progression of labor, as in women without thalassaemia. In conclusion, with the advent of regular blood transfusion associated with iron chelation therapy, pregnancy in b thalassaemia can be safe for mothers and their babies with appropriate care.
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PMID:[Pregnancy in women with thalassaemia]. 1139 93

Cytokines play an important role in intercellular communications. Human sperm contains a wide spectrum of cytokines. such as interleukin-1 beta (IL-1beta) and tumor necrosis factor alpha (TNF-alpha). Their effects on semen quality are subject to debate. The aim of this study was to determine concentrations of IL-1beta and TNF-alpha in normal fertile men and in different groups of male infertility in an attempt to clarify the physiology and suggest possible clinical uses. Sixty-six subfertile male patients with varicocele (n = 22). infection of accessory genital glands (n = 14), varicocele plus infection (n = 4), chronic epididymitis (n = 8). post-renal transplantation status (n = 5), idiopathic oligoasthenoteratospermia (n = 9), cryptorchidism (n = 1), and homozygous beta-thalassemia (n = 3) as well as 5 male controls were studied through history, physical examination, spermiograms, plasma basal hormonal levels, and IL-1beta and TNF-alpha levels in seminal fluid. There was no significant statistical difference regarding IL-1beta and TNF-alpha among fertile men and subfertile patients of any cause. 1L-1beta and TNF-alpha were in tight positive correlation (p<.001). Determination of IL-1beta and TNF-alpha does not provide useful information in male routine infertility workup. Nevertheless, a better understanding of these mediators in semen of normal men and infertile patients may contribute to a new approach to the management of male infertility.
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PMID:Interleukin-1 beta and tumor necrosis factor-alpha in normal/infertile men. 1186 23

Homozygous beta-thalassemia is a severe, transfusion dependent anaemia that also causes infertility. Preimplantation genetic diagnosis is possible. Very few pregnancies are reported among such patients. They have a very high obstetrical risk and a pluridisciplinary follow is necessary.
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PMID:[Beta-thalassemia and pregnancy. Apropos of 2 cases]. 1247 92

Beta-thalassemia major is a severe, transfusion-dependent anemia that also causes infertility due to iron deposition to endocrine organs after overtransfusion. Very few pregnancies have been reported among such patients after modern therapies. In this study, 32 women with thalassemia who were admitted to Ali Asghar Children's Hospital and Thalassemia Clinic conceived spontaneously following prolonged intensive treatment with hypertransfusion and iron chelation. The aim of this study was to estimate the fertility (spontaneous ovulation or induced ovulation) and pregnancy complications for mothers and newborns. These complications included cardiac failure, endocrine and hepatic parameters monitored throughout pregnancy and postpartum, viral infections, term and preterm deliveries, and complications of pregnancy. All case notes were examined and data were analyzed with SPSS software. Twelve babies were delivered by elective cesarean section and the remainder were delivered vaginally. The mean birthweight was 2678 g. All babies were normal; 45 cases were mature and 5 were preterm; 12 cases were aborted spontaneously. Twenty-seven mothers had no cardiac problems, but 5 had cardiac failure. Pregnancy can be safe for mothers and babies in women started early on intensive treatment.
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PMID:Pregnancy in patients treated for beta thalassemia major in two centers (Ali Asghar Children's Hospital and Thalassemia Clinic): outcome for mothers and newborn infants. 1632 10


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