scholarly journals New Data on Microdrepanocytic Disease

Blood ◽  
1955 ◽  
Vol 10 (6) ◽  
pp. 623-632 ◽  
Author(s):  
E. SILVESTRONI ◽  
I. BIANCO
Keyword(s):  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
Sickle Cell Trait ◽  
Hypochromic Anemia ◽  
Genetic Data ◽  
Clinical History ◽  
Adult Patients ◽  
Simultaneous Presence ◽  
Genetic Studies ◽  
History Of

Abstract 1. Geographic, clinical and genetic data of 35 new cases of microdrepanocytic disease are presented. 2. These data suggest that sickle cell trait and microdrepanocytic disease are not infrequent in the eastern district of Sicily, perhaps with some small foci of sicklemic subjects. 3. The clinical history of adult patients and the personal examination of some cases of microdrepanocytic disease in children show the existence of mild forms of the disease and of forms appearing late in life. 4. From the clinical viewpoint, this series shows several interesting findings in the patients with microdrepanocytic disease: painful osteoarticular crises are inconstantly present; splenomegaly may undergo a spontaneous lessening during the course of the disease, analogous to that which occurs in sickle cell anemia; in women with microdrepanocytic disease miscarriages are frequent and successful pregnancies and births are extremely rare. 5. Hematologic studies reveal hypochromic anemia, leukocytosis, nucleated erythrocytes in the circulating blood, marked abnormalities in the morphology of the erythrocytes, and decreased cell fragility to hypotonic saline. 6. Genetic studies of the new cases again show the simultaneous presence in the patients with microdrepanocytic disease of the genes responsible for microcythemia and sickle cell trait.

scholarly journals Genetic Aspects of Sickle Cell Anemia and Microdrepanocytic Disease

Blood ◽  
1952 ◽  
Vol 7 (4) ◽  
pp. 429-435 ◽  
Author(s):  
E. SILVESTRONI ◽  
I. BIANCO
Keyword(s):  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
Sickle Cell Trait ◽  
Genetic Data ◽  
The Other ◽  
Moderate Degree ◽  
Simultaneous Presence ◽  
Genetic Studies ◽  
Asymptomatic Individuals ◽  
Degree Of Severity

Abstract 1. A brief review is presented of the genetic theories of sickle cell anemia and the sickle cell trait. 2. The genetic data on 2 families of asymptomatic individuals with the sickle cell trait and of 3 families of patients with sickle cell anemia are reported. These data confirm the heterozygous-homozygous theory of Neel. 3. The possibility is considered that many of the cases of sickle cell anemia described in the white race are actually examples of "microdrepanocytic disease." 4. Microdrepanocytic disease is a new syndrome, first described by the authors from Italy. It has some of the characteristics of both sickle cell anemia and Mediterranean anemia. On the basis of studies in 11 families, the presence of the sickle cell trait in one parent and of microcythemia (Mediterranean anemia trait) in the other, results in microdrepanocytic disease in some of the offspring. Hematologic studies in these patients indicate the simultaneous presence of both sickle cell and microcythemic genes. 5. Genetic studies of these families suggests that the genes for microcythemia and for sicklemia are located on different chromosomes and are inherited independently of each other. On the other hand, their simultaneous presence leads to a disease of a moderate degree of severity having many of the features of sickle cell anemia.

Transcranial Doppler in Sickle Cell Anemia Adult Patients: Brazilian Experience.

Blood ◽  
2004 ◽  
Vol 104 (11) ◽  
pp. 3736-3736
Author(s):  
Gisele S. Silva ◽  
Maria S. Figueiredo ◽  
Perla Vicari ◽  
Airton R. Massaro ◽  
Adauto Castelo Filho ◽  
...  
Keyword(s):  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
Transcranial Doppler ◽  
Stroke Risk ◽  
Arterial Disease ◽  
Neurological Complications ◽  
Adult Patients ◽  
History Of ◽  
The Mean

Abstract Sickle cell anemia (SCA) may cause a variety of neurological complications, including stroke and headaches. Stroke occurs in up to 9% of children with SCA, and transcranial Doppler (TCD) studies have demonstrated that increased velocities are related to higher stroke risk. Throbbing headache occurs in SCA but its cause, frequency, and relationship to TCD velocities have received little attention. On the other hand, there are few TCD studies in adult patients. Our aims were: 1) to describe the main features of TCD in adult SCA patients, and 2) to investigate if there were correlation between TCD features and presence of headache. TCD was performed in 56 adult SCA patients (≥ 16 years old) and in 56 healthy individuals (HI), matched by age and race. There were 6 patients with a remote history of stroke but none were on chronic transfusion. The SCA group was submitted to a neurological evaluation and specifically asked about the occurrence of headache and its characteristics. The highest flow velocity (maxFV) recorded for each artery was considered the most representative. We analyzed the frequency of FV asymmetry (side-to-side difference > 20%) and focal FV changes. The mean maxFV was significantly higher in patients (117.7 ± 21.6 cm/s) than in HI (72.45 ± 11.48 cm/s) (p<0.005). Only one patient had maxFV higher than 170 cm/s. The frequencies of asymmetry and of focal FV changes were significantly higher in SCA. Forty-one patients (73.2%) reported having headaches. Twenty-eight patients (50%) had severe (= 5 for pain intensity at a 1–10 scale) and frequent headaches (at least once a month). This group of patients presented TCD velocities significantly higher than patients without or with milder headaches (p=0.035). In conclusion, TCD maxFV was significantly higher in adult patients with SCA than HI, however, only one patient was considered at risk of stroke according to TCD criteria described in children. FV asymmetry and focal FV changes may be markers for arterial disease in adult SCA patients, and need to be further confirmed by neuroimaging and clinical follow up studies. The patients with severe headaches presented TCD velocities significantly higher than patients without or with milder headaches, but this finding needs to be confirmed by more and larger studies.

ISSUES TO BE CONSIDERED

PEDIATRICS ◽  
1989 ◽  
Vol 83 (5) ◽  
pp. 886-890
Author(s):  
Lori B. Andrews
Keyword(s):  
Health Care ◽  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
Sickle Cell Trait ◽  
Potential Effect ◽  
Legal Issues ◽  
State Laws ◽  
Screening Programs ◽  
History Of ◽  
Cell Carriers

The main purpose of screening is to identify infants with sickle cell anemia so that appropriate health care might be given to such infants. The following four types of legal issues will be considered: the extent to which existing state newborn screening laws can accommodate sickle cell anemia, the malpractice concerns related to sickle cell anemia screening, the need for protection of the confidentiality of the data collected by such testing, and the legal issues raised by discrimination against sickle cell carriers. These legal issues cannot be considered in a vacuum, however. Attention must be given to the history of sickle cell screening laws in this country. When state laws mandating sickle cell anemia screening were passed in the early 1970s, they were aimed at giving people information that was helpful for making reproductive choices. Two carriers who were married, for example, had a 25% risk of giving birth to a child with sickle cell anemia. However, because there were no health care measures that could be taken to cure an affected fetus or even to safely diagnose the condition prenatally, the only potential effect of the law was to deter such couples from having children altogether, a tactic criticized as genocidal. Moreover, the early laws lacked provisions for counseling and, thus, fostered misunderstanding and anxiety. The information collected by screening programs apparently also served as a basis for discrimination against people with sickle cell trait. The issues presented by sickle cell anemia screening of newborns are somewhat different because screening is not for the primary purpose of changing reproductive behavior but rather to identify infants who then can be treated.

Sickle Cell Disease

2018 ◽  
Author(s):  
Ann Ng ◽  
Erin S. Williams
Keyword(s):  
African American ◽  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
Sickle Cell Trait ◽  
Organ Damage ◽  
Acute Chest Syndrome ◽  
Cell Disease ◽  
Systemic Involvement ◽  
History Of

Sickle cell anemia (sickle cell disease) is a common hemoglobinopathy with anywhere from 90,000 to 100,000 Americans affected. This chronic condition has a predominance in populations of African descent, occurring in approximately 1 out of 365 African American births, compared to 1 out of 16,300 Hispanic births. The sickle cell trait can be detected in 1 of 13 African American births. One of the most common complications associated with sickle cell anemia, vaso-occlusive crises by sickled cells, results in severe pain. Other issues associated with this condition include acute chest syndrome, lung infections, end organ damage, and stroke. With improvements in the management and prevention of pain crises, infection, and other systemic involvement, these patients are living longer, thus increasing the potential for surgical needs. Whether it is for routine surgeries or surgeries that are due to the natural history of the disease; the pediatric anesthesiologist must be knowledgeable of the management of these patients in order to prevent morbidity and mortality.

scholarly journals Methemoglobin measure in adult patients with sickle-cell anemia: influence of hydroxyurea therapy

2014 ◽  
Vol 50 (3) ◽  
Author(s):  
Marilia Rocha Laurentino ◽  
Teresa Maria de Jesus Ponte Carvalho ◽  
Talyta Ellen de Jesus dos Santos ◽  
Maritza Cavalcante Barbosa ◽  
Thayna Nogueira dos Santos ◽  
...  
Keyword(s):  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
Adult Patients ◽  
Hydroxyurea Therapy

PATHOGENESIS OF HYPOSTHENURIA IN PERSONS WITH SICKLE CELL ANEMIA OR THE SICKLE CELL TRAIT

PEDIATRICS ◽  
1960 ◽  
Vol 26 (2) ◽  
pp. 249-254
Author(s):  
L. Schlitt ◽  
H. G. Keitel
Keyword(s):  
Sickle Cell Disease ◽  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
Renal Damage ◽  
Sickle Cell Trait ◽  
Urinary Concentration ◽  
Cell Disease ◽  
Renal Vessels

Hyposthenuria was investigated in subjects with sickle cell trait and in patients with sickle cell anemia. The following were observed: 1) in subjects with sickle cell trait both normal and reduced maxima of urinary concentration are found, whereas all untreated patients with sickle cell anemia over 6 months of age have hyposthenuria; 2) hyposthenuria becomes increasingly more severe with advancing age in both sickle cell anemia and sickle cell trait; 3) in a 6-month-old patient with sickle cell anemia and hyposthenuria, the maxima of urinary concentration returned to normal after two transfusions of normal erythrocytes. Reasons are presented for favoring the hypothesis that hyposthenuria in sickle cell disease is due to renal damage, possibly from intravascular sickling of erythrocytes in renal vessels or from the presence of "free" circulating S-hemoglobin.

Genetic Studies in a Black Family with Autosomal Dominant Polycystic Kidney Disease and Sickle-Cell Trait

Nephron ◽  
1996 ◽  
Vol 72 (4) ◽  
pp. 595-598 ◽  
Author(s):  
William J. Kimberling ◽  
Jackson Joe Yium ◽  
Ann M. Johnson ◽  
Patricia A. Gabow ◽  
Manuel Martinez-Maldonado
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Sickle Cell ◽  
Autosomal Dominant ◽  
Black Family ◽  
Sickle Cell Trait ◽  
Polycystic Kidney ◽  
Genetic Studies ◽  
Autosomal Dominant Polycystic Kidney

scholarly journals Severe non-exertional rhabdomyolysis from weight loss supplement in sickle cell trait: A perfect storm?

2018 ◽  
Vol 5 (1) ◽  
pp. 35
Author(s):  
Titilope Olanipekun ◽  
Valery Effoe ◽  
Ganiat Adeogun ◽  
Agniezka Gaertig ◽  
Myrtle White ◽  
...  
Keyword(s):  
Weight Loss ◽  
Sickle Cell ◽  
Sickle Cell Trait ◽  
Elevated Serum ◽  
African American Female ◽  
Garcinia Cambogia ◽  
Exertional Rhabdomyolysis ◽  
Serum Creatine Phosphokinase ◽  
History Of

Exertional rhabdomyolysis from sickle cell trait has been documented. Also, cases of rhabdomyolysis from the use of weight loss supplements in the setting of sickle cell trait and exertion have been described. However, the role of sickle cell trait in non-exertional rhabdomyolysis is not clear. We present a case of severe non-exertional rhabdomyolysis from weight loss supplement in a patient with sickle cell trait.A 45-year-old African American female with sickle cell trait presented to the emergency department with two days history of fatigue and mild breathlessness. She also reported diarrhea and vomiting for five days before presentation. She admitted to taking Garcinia cambogia (a dietary supplement) for weight loss one week prior to the onset of symptoms. She denied alcohol or drug use, rigorous physical activity or trauma.She was dehydrated on examination. Laboratory values revealed markedly elevated serum creatine phosphokinase (CPK) and creatinine levels. Garcinia cambogia was discontinued and she was hydrated with intravenous fluids. Her CPK and creatinine levels significantly trended down and she was discharged home with no apparent sequelae.Our patient had multiple episodes of diarrhea and vomiting likely from the use of Garcinia cambogia. We believe she suffered non-exertional rhabdomyolysis from dehydration in the setting of sickle cell trait. Though dietary weight loss supplements are marketed as generally safe, this case suggests otherwise. We emphasize that clinicians routinely inquire about use of these supplements and provide appropriate counseling to patients on the adverse effects, especially among those with sickle cell trait.

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