scholarly journals Hyperhaemolysis in a pregnant woman with a homozygous β 0 ‐thalassemia mutation and two genetic modifiers

Author(s):  
Lou Jiwu ◽  
Sun Manna ◽  
Meixiang Lai ◽  
Zhao Ying ◽  
Liu Yanhui
2020 ◽  
Vol 2020 ◽  
pp. 1-11 ◽  
Author(s):  
Shaema Salih Amin ◽  
Sana Dlawar Jalal ◽  
Kosar Muhammed Ali ◽  
Ali Ibrahim Mohammed ◽  
Luqman Khalid Rasool ◽  
...  

Objective. To determine the molecular characterization and disease-associated complications of beta-thalassemia intermedia (β-TI) patients in Sulaymaniyah province, northeastern Iraq. Methods. A total of 159 β-TI patients from 114 families were enrolled. Detection of β-thalassemia mutations was done by reverse hybridization technique and direct gene sequencing. Also, the clinical and hematological data were collected through an electronic-based medical recording system using a designed comprehensive questionnaire. Results. Nineteen different β-globin gene mutations arranged in 37 various genotypes were determined. The most frequent were IVS-II-I (G>A) (47.2%), followed by IVS-I-6 (T>C) (23.3%) and IVS-I-110 (G>A) (5%). Among disease-related morbidities documented, bone disease amounted to 53% (facial deformity and osteoporosis), followed by endocrinopathies 17.6% (growth retardation and subclinical hypothyroidism), cholelithiasis 13.8%, pulmonary hypertension 11.3%, and abnormal liver function test 7.5%, whereas venous thrombosis, extramedullary hemopoiesis, and leg ulcer were less frequently observed. Age≥35 and female sex were risk factors for cholelithiasis, while age was an independent risk for hypothyroidism and female sex was associated with increased risk for osteoporosis. Mean serum ferritin of ≥1000 μg/L was associated with an increased risk of osteoporosis, whereas chelation therapy was protective for a multitude of other complications. Transfusion, on the other hand, increased the risk of osteoporosis, yet it was protective for cholelithiasis and hypothyroidism. Moreover, splenectomy was protective for cholelithiasis, although it was an independent risk for hypothyroidism. Finally, hydroxyurea was associated with an increased risk of osteoporosis, while it was protective for cholelithiasis. Discussion and Conclusion. β+-thalassemia mutation had contributed to 41.25 of families with a less severe β-thalassemia phenotype in the northeastern part of Iraq, justifying the need to investigate the contribution of genetic modifiers in ameliorating disease severity. In addition, the substantial number of β-TI patients developed disease-related morbidities, which necessitates the need for more appropriate clinical management with earlier intervention.


JAMA ◽  
1966 ◽  
Vol 196 (2) ◽  
pp. 171-172
Author(s):  
H. Schulman
Keyword(s):  

2006 ◽  
Vol 55 (5) ◽  
pp. 477
Author(s):  
In Jae Lee ◽  
Kwang Seok Eom ◽  
Seon Young Jeon ◽  
Im Kyung Hwang ◽  
Yul Lee ◽  
...  

2020 ◽  
pp. 61-63
Author(s):  
S. Sh. Kakvaeva ◽  
M. A. Magomedova ◽  
A. N. Dzhalilova

One of the most serious problems of modern medicine is sepsis. The number of patients undergoing this complication is 20–30 million (WHO) annually and has no tendency to decrease. Sepsis is characterized by severe multiple organ failure due to a violation of the response of the macroorganism to an infectious agent. Moreover, it is dangerous with high mortality. Sepsis often develops in patients with immunodeficiency conditions, which primarily include pregnant women. The article presents a clinical observation of a case of periostitis in a pregnant woman complicated by a septic state.


2020 ◽  
pp. 51-56
Author(s):  
V.М. Аntonyuk-Kysil ◽  
◽  
І.Y. Dziubanovskyi ◽  
V.М. Yenikeeva ◽  
S.І. Lichner ◽  
...  

The objective: to evaluate the results of planned open surgical interventions (POSI) in pregnant women with primary symptomatic chronic vein disease (PSCVD). Materials and methods. The study included 457 pregnant women operated on a routine basis with PSCVD. The patients underwent ultrasound duplex angioscanning (USDA) of the veins of the lower extremities, inguinal canals, and iliac veins. The severity of the clinical manifestations of PSCVD was evaluated on a VCSS scale. With the help of the circadian visual-analog scale, the dynamics after the operative pain were studied. The effect of POSI on uterine tone and cardiac function of the fetus was investigated using cardiotocography. When forming the results for POSI, data from USDA, the severity of clinical and cosmetic manifestations of PCVD, the need for active prevention of thrombophlebetic, thromboembolic and hemorrhagic complications, minimization of surgical childbirth were taken into account. The results of treatment were studied in 2 groups of patients. Patients of the first group were treated with conservative therapy, the second group – POSI. Parametric indicators, which were presented as mean and standard error M(SD), were used for statistical data processing of the study, and their reliability was estimated using Student’s t-test. The species was determined to be significant at p<0.05. Results. 495 POSI were performed at 28-38 weeks gestation in an obstetric hospital (perinatal center), by a vascular surgeon from the staff of the center, who was familiarized with the peculiarities of working with this contingent of patients. Surgery was performed under local anesthesia in 346 (75.49%) pregnant women at one extremity, in 111 (24.51%) – at two in one session. According to the results of the study, it was noted that in the first group 33.7% of patients had a positive clinical result due to the reduction of pain syndrome, while 67.5% of patients had an increase and spread of varicose transformation in the area of saphenous and/or non-saphenous veins with spread of pathological venous reflux in the distal direction. 78% of patients had the need to administer prophylactic doses of low molecular weight heparins, both during pregnancy and in postpartum period. Out of 126 pregnant women with pronounced varicose veins of the external genital organs and perineum in 36 (28.6%) deliveries were performed by caesarean section. In 9 (3%) patients there was an acute thrombophlebitis of the subcutaneous veins of the lower extremities, which required 5 pregnant women to undergo urgent surgery when the inflammatory process had spread to the middle and above along the femoral vein of the large subcutaneous vein. Pregnant women of the second group with PSCVD on the basis of obstetric hospital (perinatal center) POSI were performed in the organization, which laid the ideology of the FTS program, strictly individual indications for intervention in the optimal terms of pregnancy, multidisciplinary management of patients, due to this in 93% of operated patients regression of clinical manifestations of the disease was noted, whch contributed to the correct and safe delivery of pregnancy with 100% absence of preterm birth, abnormalities in fetal development, pregnancy course, negative impact on obstetric and somatic condition of the pregnant woman. No hemorrhagic, thrombophlebic, thromboembolic complications were noted. Patients in the postoperative period did not require medical support, as during the period of pregnancy, during delivery and in the postpartum period. There were no indications for surgical delivery. 2.4% of patients experienced complications of post-operative wounds in the form of cheese, which had no effect on pregnancy and was eliminated before delivery. In the postoperative period, if necessary, it was recommended to use elastic compression class garments 1–2. Conclusion. POSI made at PSCVD in optimal terms of pregnancy in a specialized obstetric hospital by a vascular surgeon in strictly individual indications is safe, both for the fetus and the pregnant woman. It is promising to further study the results of POSI in pregnant women with PSCVD to introduce it into the arsenal of treatment of this pathology. Key words: FTS ideology, planned open surgical interventions in pregnant women.


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