Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0039730 (thalassemia)
 10,305 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

To assess the influence of diminished oestrogen production on bone density, we studied 23 amenorrhoeic women and 20 controls (age range 16-29 years) divided into four groups: group 1: 6 patients with idopathic hypogonadotrophic hypogonadism with primary amenorrhoea (IHH); group 2: 5 patients with delayed puberty owing to thalassaemia major (TM); group 3: 12 patients with secondary hypothalamic amenorrhoea (HA); group 4: 20 women with normal menses (controls). Secondary sexual characteristics had developed in all except the women with TM. Groups 1 and 2 had never menstruated and group 3 had been amenorrhoeic for 6 months to 3 years. The control group was studied during the follicular phase of the cycle. None of the patients were taking oestrogens at the time of observation. Plasma concentrations were determined for 17 beta-oestradiol (E2), deidroepiandrosterone sulphate (DHEA-S), cortisol (F), prolactin (PRL), thyroid hormones (T3 and T4), and gonadotrophins (LH and FSH). Spinal bone mineral density (BMD g/cm2) was assessed by dual photon absorbiometry. BMD (mean +/- 1SD) was reduced in the patients (group 2: 0.920 +/- 0.95; group 1: 0.980 +/- 0.94; and group 3: 1.037 +/- 0.75) as compared with the controls (1.290 +/- 0.95) (P less than 0.01). In the three groups of patients, plasma E2 levels were lower than 50 pg/ml and were positively correlated with the BMD. As expected, plasma gonadotrophin levels were highly and significantly reduced (P less than 0.01) in the patients, compared with that of the controls. These results suggest that reduced spinal BMD in hypogonadic women may be related to the lack of oestrogenic influence on bone metabolism.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Reduced spinal bone density in young women with amenorrhoea. 183 88

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

Regular blood transfusions in patients with beta-thalassaemia major lead to secondary hemochromatosis in the majority of cases. As a consequence of chronic iron overload, many endocrinopathies may occur. The most frequent endocrine dysfunction is hypogonadotropic hypogonadism, which is mainly responsible for osteopenia in as much as 80% of thalassemic patients. The frequencies of other endocrine disorders (hypothyroidism, diabetes mellitus and hypoparathyroidism) are lower. We investigated 5 female patients aged 22-25 years for endocrine dysfunction and bone density. All presented with hypogonadotropic hypogonadism and amenorrhea (four primary and one secondary). 4 patients showed absent or delayed pubertal development and short stature (below 10th percentile). In all five, hypogonadism is the most relevant cause of osteopenia as demonstrated by osteodensitometry. Endocrine disorders, especially absent pubertal development, should be detected in good time and treated with hormonal replacement. Established osteopenia is treated hormonally and with vitamin D3 and calcium.
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PMID:[Osteopenia in beta-thalassemia major]. 898 99

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

Bone marrow transplantation (BMT) can induce short- and long-term impairment of gonadal function. Patients with beta-thalassemia represent a special group, as their primary diagnosis and its treatment modalities are responsible for gonadal dysfunction. To address the effect of BMT on puberty and gonadal function, we investigated 25 patients (12 males) with thalassemia who received allogenic BMT during childhood or adolescence and at the post-transplant evaluation were at an age that the pubertal process should have started. Pubertal stage by Tanner of breast and pubic hair, as well as testicular volume were assessed pre-BMT once and post-BMT at least twice. Menstrual history was recorded. FSH, LH, testosterone and estradiol levels were also determined. The impact of BMT appears to be different in the two sexes. Males seem to have higher tolerance, as all males who were pubertal at the time of BMT had normal testosterone, and all but one normal gonadotropin levels. From those who were prepubertal at BMT, 62% proceeded to normal pubertal development. Post-menarcheal females seem to be an extremely sensitive group to the deleterious effect of the transplantation process, as 100% of the post-menarcheal females exhibited amenorrhea and elevated gonadotropin levels. These findings are important for pre- and post-BMT counseling.
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PMID:Gonadal function of young patients with beta-thalassemia following bone marrow transplantation. 1592 Nov 77

Preserving fertility, preventing early menopause, and predicting reproductive ability have become crucial for many adult thalassemia major females. Luteinizing hormone/follicle-stimulating hormone (LH/FSH) and estradiol, commonly used for assessment of fertility potential in thalassemia, have a poor predictive value. Current reproductive practice uses markers of ovarian reserve testing, which were not yet studied in thalassemia women. We explored the relationship between liver iron concentration (LIC) and fertility status in 26 females (mean 30 years old). Seventeen (65%) of them experienced primary or secondary amenorrhea. Levels of LH/FSH and estradiol were low or undetectable in 48% and 35% of patients, respectively and did not correlate with age, presence of amenorrhea, and LIC. This further addresses the need for utilization of current available methods for assessment of fertility capacity in thalassemia, which will also allow future correlation with pituitary iron measures by MRI as well as early intervention for fertility preservation.
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PMID:Fertility potential in thalassemia major women: current findings and future diagnostic tools. 2071 97